Canonical Allele Identifier: CA658796668

Gene: SGCD

Linked Data

• ClinVar Variation Id: 513134
• ClinVar RCV Id: RCV000606427
• dbSNP Id: rs1440354794
• MyVariant Identifiers: chr5:g.155756574G>T (hg19) ; chr5:g.156329564G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156329564G>T , CM000667.2:g.156329564G>T	GRCh38
NC_000005.9:g.155756574G>T , CM000667.1:g.155756574G>T	GRCh37
NC_000005.8:g.155689152G>T	NCBI36
NG_008693.2:g.464221G>T , LRG_205:g.464221G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000337851.9:c.-13G>T MANE Select	ENSP00000338343.4:n.-13G>T
ENST00000337851.8:c.-13G>T	ENSP00000338343.4:n.-13G>T
ENST00000435422.7:c.-1+2332G>T	ENSP00000403003.2:n.-1+2332G>T
ENST00000517913.5:c.-13G>T	ENSP00000429378.1:n.-13G>T
ENST00000524347.2:c.-13G>T	ENSP00000430794.1:n.-13G>T
NM_000337.5:c.-13G>T , LRG_205t1:c.-13G>T	NP_000328.2:n.-13G>T
NM_001128209.1:c.-1+2332G>T	NP_001121681.1:n.-1+2332G>T
NM_172244.2:c.-13G>T	NP_758447.1:n.-13G>T
XM_005265966.3:c.-13G>T	XP_005266023.1:n.-13G>T
XM_005265967.1:c.-13G>T	XP_005266024.1:n.-13G>T
XM_006714911.2:c.-13G>T	XP_006714974.1:n.-13G>T
XM_011534621.1:c.1-14925G>T	XP_011532923.1:n.1-14925G>T
XR_941123.1:n.254+17889C>A
XM_005265966.5:c.-13G>T	XP_005266023.1:n.-13G>T
XM_005265967.2:c.-13G>T	XP_005266024.1:n.-13G>T
XM_011534621.2:c.1-14925G>T	XP_011532923.1:n.1-14925G>T
XM_017009723.2:c.-13G>T	XP_016865212.1:n.-13G>T
XM_017009724.1:c.-13G>T	XP_016865213.1:n.-13G>T
NM_001128209.2:c.-1+2332G>T	NP_001121681.1:n.-1+2332G>T
NM_172244.3:c.-13G>T	NP_758447.1:n.-13G>T
NM_000337.6:c.-13G>T MANE Select	NP_000328.2:n.-13G>T