Canonical Allele Identifier: CA563961370
Community Standard Title: NM_000337.6(SGCD):c.699+15G>A
Gene: SGCD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.156757719G>A , CM000667.2:g.156757719G>A GRCh38
NC_000005.9:g.156184730G>A , CM000667.1:g.156184730G>A GRCh37
NC_000005.8:g.156117308G>A NCBI36
NG_008693.2:g.892377G>A , LRG_205:g.892377G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000337.6:c.699+15G>A MANE Select NP_000328.2:n.699+15G>A
ENST00000337851.9:c.699+15G>A MANE Select ENSP00000338343.4:n.699+15G>A
NM_000337.5:c.699+15G>A , LRG_205t1:c.699+15G>A NP_000328.2:n.699+15G>A
NM_001128209.1:c.696+15G>A NP_001121681.1:n.696+15G>A
NM_001128209.2:c.696+15G>A NP_001121681.1:n.696+15G>A
NM_172244.2:c.714G>A NP_758447.1:p.Lys238=
NM_172244.3:c.714G>A NP_758447.1:p.Lys238=
ENST00000337851.8:c.699+15G>A ENSP00000338343.4:n.699+15G>A
ENST00000435422.7:c.696+15G>A ENSP00000403003.2:n.696+15G>A
ENST00000517913.5:c.714G>A ENSP00000429378.1:p.Lys238=
XM_005265966.3:c.699+15G>A XP_005266023.1:n.699+15G>A
XM_005265966.5:c.699+15G>A XP_005266023.1:n.699+15G>A
XM_006714911.2:c.699+15G>A XP_006714974.1:n.699+15G>A
XM_011534621.1:c.696+15G>A XP_011532923.1:n.696+15G>A
XM_011534621.2:c.696+15G>A XP_011532923.1:n.696+15G>A
XM_017009723.2:c.699+15G>A XP_016865212.1:n.699+15G>A
XM_017009724.1:c.699+15G>A XP_016865213.1:n.699+15G>A