Canonical Allele Identifier: CA15396047
Gene: SGCD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.155924251T>A , CM000667.2:g.155924251T>A GRCh38
NC_000005.9:g.155351261T>A , CM000667.1:g.155351261T>A GRCh37
NC_000005.8:g.155283839T>A NCBI36
NG_008693.2:g.58908T>A , LRG_205:g.58908T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000517913.5:c.-282+53827T>A ENSP00000429378.1:n.-282+53827T>A
XM_017009723.2:c.-208+53827T>A XP_016865212.1:n.-208+53827T>A
XM_017009724.1:c.-208+195261T>A XP_016865213.1:n.-208+195261T>A