Canonical Allele Identifier: CA10619805
Gene: SGCD HGNC NCBI

Linked Data

ClinVar Variation Id: 352407
ClinVar RCV Id: RCV000269279 RCV000366225 RCV002487539 RCV003233593 RCV003233594
dbSNP Id: rs746078886
gnomAD v2: 5-156191992-G-A
gnomAD v3: 5-156764981-G-A
gnomAD v4: 5-156764981-G-A
MyVariant Identifiers: chr5:g.156191992G>A (hg19) chr5:g.156764981G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156764981G>A , CM000667.2:g.156764981G>A GRCh38
NC_000005.9:g.156191992G>A , CM000667.1:g.156191992G>A GRCh37
NC_000005.8:g.156124570G>A NCBI36
NG_008693.2:g.899639G>A , LRG_205:g.899639G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000337851.9:c.*5591G>A MANE Select ENSP00000338343.4:n.*5591G>A
ENST00000435422.7:c.*5591G>A ENSP00000403003.2:n.*5591G>A
NM_000337.5:c.*5591G>A , LRG_205t1:c.*5591G>A NP_000328.2:n.*5591G>A
NM_001128209.1:c.*5591G>A NP_001121681.1:n.*5591G>A
XM_005265966.3:c.*5591G>A XP_005266023.1:n.*5591G>A
XM_006714911.2:c.*5591G>A XP_006714974.1:n.*5591G>A
XM_011534621.1:c.*5591G>A XP_011532923.1:n.*5591G>A
NM_001128209.2:c.*5591G>A NP_001121681.1:n.*5591G>A
NM_000337.6:c.*5591G>A MANE Select NP_000328.2:n.*5591G>A
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