Canonical Allele Identifier: CA132468

Gene: SGCD

Linked Data

• ClinVar Variation Id: 43355
• ClinVar RCV Id: RCV000036263 ; RCV000770209 ; RCV000992964
• dbSNP Id: rs200757725
• ExAC: 5:156186403 A / C
• gnomAD v2: 5-156186403-A-C
• gnomAD v3: 5-156759392-A-C
• gnomAD v4: 5-156759392-A-C
• MyVariant Identifiers: chr5:g.156186403A>C (hg19) ; chr5:g.156759392A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156759392A>C , CM000667.2:g.156759392A>C	GRCh38
NC_000005.9:g.156186403A>C , CM000667.1:g.156186403A>C	GRCh37
NC_000005.8:g.156118981A>C	NCBI36
NG_008693.2:g.894050A>C , LRG_205:g.894050A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000337851.9:c.*2A>C MANE Select	ENSP00000338343.4:n.*2A>C
ENST00000337851.8:c.*2A>C	ENSP00000338343.4:n.*2A>C
ENST00000435422.7:c.*2A>C	ENSP00000403003.2:n.*2A>C
NM_000337.5:c.*2A>C , LRG_205t1:c.*2A>C	NP_000328.2:n.*2A>C
NM_001128209.1:c.*2A>C	NP_001121681.1:n.*2A>C
XM_005265966.3:c.*2A>C	XP_005266023.1:n.*2A>C
XM_006714911.2:c.*2A>C	XP_006714974.1:n.*2A>C
XM_011534621.1:c.*2A>C	XP_011532923.1:n.*2A>C
NM_001128209.2:c.*2A>C	NP_001121681.1:n.*2A>C
NM_000337.6:c.*2A>C MANE Select	NP_000328.2:n.*2A>C