Canonical Allele Identifier: CA2578464769

Gene: SGCD

Linked Data

• gnomAD v4: 5-156594875-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156594875T>C , CM000667.2:g.156594875T>C	GRCh38
NC_000005.9:g.156021885T>C , CM000667.1:g.156021885T>C	GRCh37
NC_000005.8:g.155954463T>C	NCBI36
NG_008693.2:g.729532T>C , LRG_205:g.729532T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337851.9:c.383-57T>C MANE Select	ENSP00000338343.4:n.383-57T>C
ENST00000337851.8:c.383-57T>C	ENSP00000338343.4:n.383-57T>C
ENST00000435422.7:c.380-57T>C	ENSP00000403003.2:n.380-57T>C
ENST00000517913.5:c.383-57T>C	ENSP00000429378.1:n.383-57T>C
NM_000337.5:c.383-57T>C , LRG_205t1:c.383-57T>C	NP_000328.2:n.383-57T>C
NM_001128209.1:c.380-57T>C	NP_001121681.1:n.380-57T>C
NM_172244.2:c.383-57T>C	NP_758447.1:n.383-57T>C
XM_005265966.3:c.383-57T>C	XP_005266023.1:n.383-57T>C
XM_005265967.1:c.383-57T>C	XP_005266024.1:n.383-57T>C
XM_006714911.2:c.383-57T>C	XP_006714974.1:n.383-57T>C
XM_011534621.1:c.380-57T>C	XP_011532923.1:n.380-57T>C
XM_005265966.5:c.383-57T>C	XP_005266023.1:n.383-57T>C
XM_005265967.2:c.383-57T>C	XP_005266024.1:n.383-57T>C
XM_011534621.2:c.380-57T>C	XP_011532923.1:n.380-57T>C
XM_017009723.2:c.383-57T>C	XP_016865212.1:n.383-57T>C
XM_017009724.1:c.383-57T>C	XP_016865213.1:n.383-57T>C
NM_001128209.2:c.380-57T>C	NP_001121681.1:n.380-57T>C
NM_172244.3:c.383-57T>C	NP_758447.1:n.383-57T>C
NM_000337.6:c.383-57T>C MANE Select	NP_000328.2:n.383-57T>C