Canonical Allele Identifier: CA3530546
Gene: SGCD HGNC NCBI

Linked Data

ClinVar Variation Id: 288408
dbSNP Id: rs749273088

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156508678C>T , CM000667.2:g.156508678C>T GRCh38
NC_000005.9:g.155935688C>T , CM000667.1:g.155935688C>T GRCh37
NC_000005.8:g.155868266C>T NCBI36
NG_008693.2:g.643335C>T , LRG_205:g.643335C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000337851.9:c.270C>T MANE Select ENSP00000338343.4:p.Tyr90=
ENST00000337851.8:c.270C>T ENSP00000338343.4:p.Tyr90=
ENST00000435422.7:c.267C>T ENSP00000403003.2:p.Tyr89=
ENST00000517913.5:c.270C>T ENSP00000429378.1:p.Tyr90=
ENST00000524347.2:c.*134C>T ENSP00000430794.1:n.*134C>T
NM_000337.5:c.270C>T , LRG_205t1:c.270C>T NP_000328.2:p.Tyr90=
NM_001128209.1:c.267C>T NP_001121681.1:p.Tyr89=
NM_172244.2:c.270C>T NP_758447.1:p.Tyr90=
XM_005265966.3:c.270C>T XP_005266023.1:p.Tyr90=
XM_005265967.1:c.270C>T XP_005266024.1:p.Tyr90=
XM_006714911.2:c.270C>T XP_006714974.1:p.Tyr90=
XM_011534621.1:c.267C>T XP_011532923.1:p.Tyr89=
XM_005265966.5:c.270C>T XP_005266023.1:p.Tyr90=
XM_005265967.2:c.270C>T XP_005266024.1:p.Tyr90=
XM_011534621.2:c.267C>T XP_011532923.1:p.Tyr89=
XM_017009723.2:c.270C>T XP_016865212.1:p.Tyr90=
XM_017009724.1:c.270C>T XP_016865213.1:p.Tyr90=
NM_001128209.2:c.267C>T NP_001121681.1:p.Tyr89=
NM_172244.3:c.270C>T NP_758447.1:p.Tyr90=
NM_000337.6:c.270C>T MANE Select NP_000328.2:p.Tyr90=