Canonical Allele Identifier: CA362008298

Gene: SGCD

Linked Data

• gnomAD v4: 5-156647532-C-A
• MyVariant Identifiers: chr5:g.156074542C>A (hg19) ; chr5:g.156647532C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156647532C>A , CM000667.2:g.156647532C>A	GRCh38
NC_000005.9:g.156074542C>A , CM000667.1:g.156074542C>A	GRCh37
NC_000005.8:g.156007120C>A	NCBI36
NG_008693.2:g.782189C>A , LRG_205:g.782189C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.571C>A MANE Select	ENSP00000338343.4:p.Leu191Ile
ENST00000337851.8:c.571C>A	ENSP00000338343.4:p.Leu191Ile
ENST00000435422.7:c.568C>A	ENSP00000403003.2:p.Leu190Ile
ENST00000517913.5:c.571C>A	ENSP00000429378.1:p.Leu191Ile
NM_000337.5:c.571C>A , LRG_205t1:c.571C>A	NP_000328.2:p.Leu191Ile
NM_001128209.1:c.568C>A	NP_001121681.1:p.Leu190Ile
NM_172244.2:c.571C>A	NP_758447.1:p.Leu191Ile
XM_005265966.3:c.571C>A	XP_005266023.1:p.Leu191Ile
XM_005265967.1:c.502+52481C>A	XP_005266024.1:n.502+52481C>A
XM_006714911.2:c.571C>A	XP_006714974.1:p.Leu191Ile
XM_011534621.1:c.568C>A	XP_011532923.1:p.Leu190Ile
XM_005265966.5:c.571C>A	XP_005266023.1:p.Leu191Ile
XM_005265967.2:c.502+52481C>A	XP_005266024.1:n.502+52481C>A
XM_011534621.2:c.568C>A	XP_011532923.1:p.Leu190Ile
XM_017009723.2:c.571C>A	XP_016865212.1:p.Leu191Ile
XM_017009724.1:c.571C>A	XP_016865213.1:p.Leu191Ile
NM_001128209.2:c.568C>A	NP_001121681.1:p.Leu190Ile
NM_172244.3:c.571C>A	NP_758447.1:p.Leu191Ile
NM_000337.6:c.571C>A MANE Select	NP_000328.2:p.Leu191Ile