Canonical Allele Identifier: CA362008772

Gene: SGCD

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.156757705G>C , CM000667.2:g.156757705G>C	GRCh38
NC_000005.9:g.156184716G>C , CM000667.1:g.156184716G>C	GRCh37
NC_000005.8:g.156117294G>C	NCBI36
NG_008693.2:g.892363G>C , LRG_205:g.892363G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000337.6:c.699+1G>C MANE Select	NP_000328.2:n.699+1G>C
ENST00000337851.9:c.699+1G>C MANE Select	ENSP00000338343.4:n.699+1G>C
NM_000337.5:c.699+1G>C , LRG_205t1:c.699+1G>C	NP_000328.2:n.699+1G>C
NM_001128209.1:c.696+1G>C	NP_001121681.1:n.696+1G>C
NM_001128209.2:c.696+1G>C	NP_001121681.1:n.696+1G>C
NM_172244.2:c.700G>C	NP_758447.1:p.Val234Leu
NM_172244.3:c.700G>C	NP_758447.1:p.Val234Leu
ENST00000337851.8:c.699+1G>C	ENSP00000338343.4:n.699+1G>C
ENST00000435422.7:c.696+1G>C	ENSP00000403003.2:n.696+1G>C
ENST00000517913.5:c.700G>C	ENSP00000429378.1:p.Val234Leu
XM_005265966.3:c.699+1G>C	XP_005266023.1:n.699+1G>C
XM_005265966.5:c.699+1G>C	XP_005266023.1:n.699+1G>C
XM_006714911.2:c.699+1G>C	XP_006714974.1:n.699+1G>C
XM_011534621.1:c.696+1G>C	XP_011532923.1:n.696+1G>C
XM_011534621.2:c.696+1G>C	XP_011532923.1:n.696+1G>C
XM_017009723.2:c.699+1G>C	XP_016865212.1:n.699+1G>C
XM_017009724.1:c.699+1G>C	XP_016865213.1:n.699+1G>C