Canonical Allele Identifier: CA362008301

Gene: SGCD

Linked Data

• gnomAD v4: 5-156647533-T-C
• MyVariant Identifiers: chr5:g.156074543T>C (hg19) ; chr5:g.156647533T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156647533T>C , CM000667.2:g.156647533T>C	GRCh38
NC_000005.9:g.156074543T>C , CM000667.1:g.156074543T>C	GRCh37
NC_000005.8:g.156007121T>C	NCBI36
NG_008693.2:g.782190T>C , LRG_205:g.782190T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000337851.9:c.572T>C MANE Select	ENSP00000338343.4:p.Leu191Pro
ENST00000337851.8:c.572T>C	ENSP00000338343.4:p.Leu191Pro
ENST00000435422.7:c.569T>C	ENSP00000403003.2:p.Leu190Pro
ENST00000517913.5:c.572T>C	ENSP00000429378.1:p.Leu191Pro
NM_000337.5:c.572T>C , LRG_205t1:c.572T>C	NP_000328.2:p.Leu191Pro
NM_001128209.1:c.569T>C	NP_001121681.1:p.Leu190Pro
NM_172244.2:c.572T>C	NP_758447.1:p.Leu191Pro
XM_005265966.3:c.572T>C	XP_005266023.1:p.Leu191Pro
XM_005265967.1:c.502+52482T>C	XP_005266024.1:n.502+52482T>C
XM_006714911.2:c.572T>C	XP_006714974.1:p.Leu191Pro
XM_011534621.1:c.569T>C	XP_011532923.1:p.Leu190Pro
XM_005265966.5:c.572T>C	XP_005266023.1:p.Leu191Pro
XM_005265967.2:c.502+52482T>C	XP_005266024.1:n.502+52482T>C
XM_011534621.2:c.569T>C	XP_011532923.1:p.Leu190Pro
XM_017009723.2:c.572T>C	XP_016865212.1:p.Leu191Pro
XM_017009724.1:c.572T>C	XP_016865213.1:p.Leu191Pro
NM_001128209.2:c.569T>C	NP_001121681.1:p.Leu190Pro
NM_172244.3:c.572T>C	NP_758447.1:p.Leu191Pro
NM_000337.6:c.572T>C MANE Select	NP_000328.2:p.Leu191Pro