Canonical Allele Identifier: CA362010466

Gene: SGCD

Linked Data

• gnomAD v4: 5-156594979-G-A
• MyVariant Identifiers: chr5:g.156021989G>A (hg19) ; chr5:g.156594979G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156594979G>A , CM000667.2:g.156594979G>A	GRCh38
NC_000005.9:g.156021989G>A , CM000667.1:g.156021989G>A	GRCh37
NC_000005.8:g.155954567G>A	NCBI36
NG_008693.2:g.729636G>A , LRG_205:g.729636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.430G>A MANE Select	ENSP00000338343.4:p.Val144Ile
ENST00000337851.8:c.430G>A	ENSP00000338343.4:p.Val144Ile
ENST00000435422.7:c.427G>A	ENSP00000403003.2:p.Val143Ile
ENST00000517913.5:c.430G>A	ENSP00000429378.1:p.Val144Ile
NM_000337.5:c.430G>A , LRG_205t1:c.430G>A	NP_000328.2:p.Val144Ile
NM_001128209.1:c.427G>A	NP_001121681.1:p.Val143Ile
NM_172244.2:c.430G>A	NP_758447.1:p.Val144Ile
XM_005265966.3:c.430G>A	XP_005266023.1:p.Val144Ile
XM_005265967.1:c.430G>A	XP_005266024.1:p.Val144Ile
XM_006714911.2:c.430G>A	XP_006714974.1:p.Val144Ile
XM_011534621.1:c.427G>A	XP_011532923.1:p.Val143Ile
XM_005265966.5:c.430G>A	XP_005266023.1:p.Val144Ile
XM_005265967.2:c.430G>A	XP_005266024.1:p.Val144Ile
XM_011534621.2:c.427G>A	XP_011532923.1:p.Val143Ile
XM_017009723.2:c.430G>A	XP_016865212.1:p.Val144Ile
XM_017009724.1:c.430G>A	XP_016865213.1:p.Val144Ile
NM_001128209.2:c.427G>A	NP_001121681.1:p.Val143Ile
NM_172244.3:c.430G>A	NP_758447.1:p.Val144Ile
NM_000337.6:c.430G>A MANE Select	NP_000328.2:p.Val144Ile