Canonical Allele Identifier: CA362010212

Gene: SGCD

Linked Data

• MyVariant Identifiers: chr5:g.156021949A>C (hg19) ; chr5:g.156594939A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156594939A>C , CM000667.2:g.156594939A>C	GRCh38
NC_000005.9:g.156021949A>C , CM000667.1:g.156021949A>C	GRCh37
NC_000005.8:g.155954527A>C	NCBI36
NG_008693.2:g.729596A>C , LRG_205:g.729596A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.390A>C MANE Select	ENSP00000338343.4:p.Lys130Asn
ENST00000337851.8:c.390A>C	ENSP00000338343.4:p.Lys130Asn
ENST00000435422.7:c.387A>C	ENSP00000403003.2:p.Lys129Asn
ENST00000517913.5:c.390A>C	ENSP00000429378.1:p.Lys130Asn
NM_000337.5:c.390A>C , LRG_205t1:c.390A>C	NP_000328.2:p.Lys130Asn
NM_001128209.1:c.387A>C	NP_001121681.1:p.Lys129Asn
NM_172244.2:c.390A>C	NP_758447.1:p.Lys130Asn
XM_005265966.3:c.390A>C	XP_005266023.1:p.Lys130Asn
XM_005265967.1:c.390A>C	XP_005266024.1:p.Lys130Asn
XM_006714911.2:c.390A>C	XP_006714974.1:p.Lys130Asn
XM_011534621.1:c.387A>C	XP_011532923.1:p.Lys129Asn
XM_005265966.5:c.390A>C	XP_005266023.1:p.Lys130Asn
XM_005265967.2:c.390A>C	XP_005266024.1:p.Lys130Asn
XM_011534621.2:c.387A>C	XP_011532923.1:p.Lys129Asn
XM_017009723.2:c.390A>C	XP_016865212.1:p.Lys130Asn
XM_017009724.1:c.390A>C	XP_016865213.1:p.Lys130Asn
NM_001128209.2:c.387A>C	NP_001121681.1:p.Lys129Asn
NM_172244.3:c.390A>C	NP_758447.1:p.Lys130Asn
NM_000337.6:c.390A>C MANE Select	NP_000328.2:p.Lys130Asn