Canonical Allele Identifier: CA2843117219
Gene: SLC45A3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.205668991T>A , CM000663.2:g.205668991T>A GRCh38
NC_000001.10:g.205638119T>A , CM000663.1:g.205638119T>A GRCh37
NC_000001.9:g.203904742T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000367145.4:c.-230-4105A>T MANE Select ENSP00000356113.3:n.-230-4105A>T
ENST00000367145.3:c.-230-4105A>T ENSP00000356113.3:n.-230-4105A>T
NM_033102.2:c.-230-4105A>T NP_149093.1:n.-230-4105A>T
XM_005245556.2:c.-231+704A>T XP_005245613.1:n.-231+704A>T
XM_005245557.3:c.-230-4105A>T XP_005245614.1:n.-230-4105A>T
XM_005245559.3:c.-231+2959A>T XP_005245616.1:n.-231+2959A>T
XM_005245560.2:c.-230-4105A>T XP_005245617.1:n.-230-4105A>T
NM_033102.3:c.-230-4105A>T MANE Select NP_149093.1:n.-230-4105A>T