Canonical Allele Identifier: CA2580591316
Gene: SGCD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.155967220C>A , CM000667.2:g.155967220C>A GRCh38
NC_000005.9:g.155394230C>A , CM000667.1:g.155394230C>A GRCh37
NC_000005.8:g.155326808C>A NCBI36
NG_008693.2:g.101877C>A , LRG_205:g.101877C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000517913.5:c.-282+96796C>A ENSP00000429378.1:n.-282+96796C>A
XM_017009723.2:c.-208+96796C>A XP_016865212.1:n.-208+96796C>A
XM_017009724.1:c.-207-156636C>A XP_016865213.1:n.-207-156636C>A