Canonical Allele Identifier: CA362010452

Gene: SGCD

Linked Data

• gnomAD v4: 5-156594975-A-C
• MyVariant Identifiers: chr5:g.156021985A>C (hg19) ; chr5:g.156594975A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156594975A>C , CM000667.2:g.156594975A>C	GRCh38
NC_000005.9:g.156021985A>C , CM000667.1:g.156021985A>C	GRCh37
NC_000005.8:g.155954563A>C	NCBI36
NG_008693.2:g.729632A>C , LRG_205:g.729632A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.426A>C MANE Select	ENSP00000338343.4:p.Lys142Asn
ENST00000337851.8:c.426A>C	ENSP00000338343.4:p.Lys142Asn
ENST00000435422.7:c.423A>C	ENSP00000403003.2:p.Lys141Asn
ENST00000517913.5:c.426A>C	ENSP00000429378.1:p.Lys142Asn
NM_000337.5:c.426A>C , LRG_205t1:c.426A>C	NP_000328.2:p.Lys142Asn
NM_001128209.1:c.423A>C	NP_001121681.1:p.Lys141Asn
NM_172244.2:c.426A>C	NP_758447.1:p.Lys142Asn
XM_005265966.3:c.426A>C	XP_005266023.1:p.Lys142Asn
XM_005265967.1:c.426A>C	XP_005266024.1:p.Lys142Asn
XM_006714911.2:c.426A>C	XP_006714974.1:p.Lys142Asn
XM_011534621.1:c.423A>C	XP_011532923.1:p.Lys141Asn
XM_005265966.5:c.426A>C	XP_005266023.1:p.Lys142Asn
XM_005265967.2:c.426A>C	XP_005266024.1:p.Lys142Asn
XM_011534621.2:c.423A>C	XP_011532923.1:p.Lys141Asn
XM_017009723.2:c.426A>C	XP_016865212.1:p.Lys142Asn
XM_017009724.1:c.426A>C	XP_016865213.1:p.Lys142Asn
NM_001128209.2:c.423A>C	NP_001121681.1:p.Lys141Asn
NM_172244.3:c.426A>C	NP_758447.1:p.Lys142Asn
NM_000337.6:c.426A>C MANE Select	NP_000328.2:p.Lys142Asn