Canonical Allele Identifier: CA362007960
Gene: SGCD HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.155935632A>C (hg19) chr5:g.156508622A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156508622A>C , CM000667.2:g.156508622A>C GRCh38
NC_000005.9:g.155935632A>C , CM000667.1:g.155935632A>C GRCh37
NC_000005.8:g.155868210A>C NCBI36
NG_008693.2:g.643279A>C , LRG_205:g.643279A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000337851.9:c.214A>C MANE Select ENSP00000338343.4:p.Ile72Leu
ENST00000337851.8:c.214A>C ENSP00000338343.4:p.Ile72Leu
ENST00000435422.7:c.211A>C ENSP00000403003.2:p.Ile71Leu
ENST00000517913.5:c.214A>C ENSP00000429378.1:p.Ile72Leu
ENST00000524347.2:c.*78A>C ENSP00000430794.1:n.*78A>C
NM_000337.5:c.214A>C , LRG_205t1:c.214A>C NP_000328.2:p.Ile72Leu
NM_001128209.1:c.211A>C NP_001121681.1:p.Ile71Leu
NM_172244.2:c.214A>C NP_758447.1:p.Ile72Leu
XM_005265966.3:c.214A>C XP_005266023.1:p.Ile72Leu
XM_005265967.1:c.214A>C XP_005266024.1:p.Ile72Leu
XM_006714911.2:c.214A>C XP_006714974.1:p.Ile72Leu
XM_011534621.1:c.211A>C XP_011532923.1:p.Ile71Leu
XM_005265966.5:c.214A>C XP_005266023.1:p.Ile72Leu
XM_005265967.2:c.214A>C XP_005266024.1:p.Ile72Leu
XM_011534621.2:c.211A>C XP_011532923.1:p.Ile71Leu
XM_017009723.2:c.214A>C XP_016865212.1:p.Ile72Leu
XM_017009724.1:c.214A>C XP_016865213.1:p.Ile72Leu
NM_001128209.2:c.211A>C NP_001121681.1:p.Ile71Leu
NM_172244.3:c.214A>C NP_758447.1:p.Ile72Leu
NM_000337.6:c.214A>C MANE Select NP_000328.2:p.Ile72Leu
Search 100 bp 5'
Search 100 bp 3'