Canonical Allele Identifier: CA2676178107
Gene: SGCD HGNC NCBI

Linked Data

gnomAD v4: 5-156508709-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156508709T>C , CM000667.2:g.156508709T>C GRCh38
NC_000005.9:g.155935719T>C , CM000667.1:g.155935719T>C GRCh37
NC_000005.8:g.155868297T>C NCBI36
NG_008693.2:g.643366T>C , LRG_205:g.643366T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000337851.9:c.294+7T>C MANE Select ENSP00000338343.4:n.294+7T>C
ENST00000337851.8:c.294+7T>C ENSP00000338343.4:n.294+7T>C
ENST00000435422.7:c.291+7T>C ENSP00000403003.2:n.291+7T>C
ENST00000517913.5:c.294+7T>C ENSP00000429378.1:n.294+7T>C
ENST00000524347.2:c.*158+7T>C ENSP00000430794.1:n.*158+7T>C
NM_000337.5:c.294+7T>C , LRG_205t1:c.294+7T>C NP_000328.2:n.294+7T>C
NM_001128209.1:c.291+7T>C NP_001121681.1:n.291+7T>C
NM_172244.2:c.294+7T>C NP_758447.1:n.294+7T>C
XM_005265966.3:c.294+7T>C XP_005266023.1:n.294+7T>C
XM_005265967.1:c.294+7T>C XP_005266024.1:n.294+7T>C
XM_006714911.2:c.294+7T>C XP_006714974.1:n.294+7T>C
XM_011534621.1:c.291+7T>C XP_011532923.1:n.291+7T>C
XM_005265966.5:c.294+7T>C XP_005266023.1:n.294+7T>C
XM_005265967.2:c.294+7T>C XP_005266024.1:n.294+7T>C
XM_011534621.2:c.291+7T>C XP_011532923.1:n.291+7T>C
XM_017009723.2:c.294+7T>C XP_016865212.1:n.294+7T>C
XM_017009724.1:c.294+7T>C XP_016865213.1:n.294+7T>C
NM_001128209.2:c.291+7T>C NP_001121681.1:n.291+7T>C
NM_172244.3:c.294+7T>C NP_758447.1:n.294+7T>C
NM_000337.6:c.294+7T>C MANE Select NP_000328.2:n.294+7T>C
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