Canonical Allele Identifier: CA362010202

Gene: SGCD

Linked Data

• ClinVar Variation Id: 3160986
• ClinVar RCV Id: RCV004455872
• MyVariant Identifiers: chr5:g.156021947A>G (hg19) ; chr5:g.156594937A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156594937A>G , CM000667.2:g.156594937A>G	GRCh38
NC_000005.9:g.156021947A>G , CM000667.1:g.156021947A>G	GRCh37
NC_000005.8:g.155954525A>G	NCBI36
NG_008693.2:g.729594A>G , LRG_205:g.729594A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.388A>G MANE Select	ENSP00000338343.4:p.Lys130Glu
ENST00000337851.8:c.388A>G	ENSP00000338343.4:p.Lys130Glu
ENST00000435422.7:c.385A>G	ENSP00000403003.2:p.Lys129Glu
ENST00000517913.5:c.388A>G	ENSP00000429378.1:p.Lys130Glu
NM_000337.5:c.388A>G , LRG_205t1:c.388A>G	NP_000328.2:p.Lys130Glu
NM_001128209.1:c.385A>G	NP_001121681.1:p.Lys129Glu
NM_172244.2:c.388A>G	NP_758447.1:p.Lys130Glu
XM_005265966.3:c.388A>G	XP_005266023.1:p.Lys130Glu
XM_005265967.1:c.388A>G	XP_005266024.1:p.Lys130Glu
XM_006714911.2:c.388A>G	XP_006714974.1:p.Lys130Glu
XM_011534621.1:c.385A>G	XP_011532923.1:p.Lys129Glu
XM_005265966.5:c.388A>G	XP_005266023.1:p.Lys130Glu
XM_005265967.2:c.388A>G	XP_005266024.1:p.Lys130Glu
XM_011534621.2:c.385A>G	XP_011532923.1:p.Lys129Glu
XM_017009723.2:c.388A>G	XP_016865212.1:p.Lys130Glu
XM_017009724.1:c.388A>G	XP_016865213.1:p.Lys130Glu
NM_001128209.2:c.385A>G	NP_001121681.1:p.Lys129Glu
NM_172244.3:c.388A>G	NP_758447.1:p.Lys130Glu
NM_000337.6:c.388A>G MANE Select	NP_000328.2:p.Lys130Glu