Canonical Allele Identifier: CA359397779
Gene: SLC45A2 HGNC NCBI

Linked Data

dbSNP Id: rs1310239596
gnomAD v2: 5-33984570-A-G
gnomAD v4: 5-33984465-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33984465A>G , CM000667.2:g.33984465A>G GRCh38
NC_000005.9:g.33984570A>G , CM000667.1:g.33984570A>G GRCh37
NC_000005.8:g.34020327A>G NCBI36
NG_011691.2:g.5211T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.119T>C MANE Select ENSP00000296589.4:p.Met40Thr
ENST00000296589.8:c.119T>C ENSP00000296589.4:p.Met40Thr
ENST00000382102.7:c.119T>C ENSP00000371534.3:p.Met40Thr
ENST00000505056.1:n.98T>C
ENST00000509381.1:c.119T>C ENSP00000421100.1:p.Met40Thr
NM_001012509.3:c.119T>C NP_001012527.1:p.Met40Thr
NM_001297417.2:c.119T>C NP_001284346.2:p.Met40Thr
NM_016180.4:c.119T>C NP_057264.3:p.Met40Thr
XM_011514052.1:c.119T>C XP_011512354.1:p.Met40Thr
XR_925620.1:n.680T>C
NM_016180.5:c.119T>C MANE Select NP_057264.4:p.Met40Thr
NM_001012509.4:c.119T>C NP_001012527.2:p.Met40Thr
NM_001297417.3:c.119T>C NP_001284346.2:p.Met40Thr
NM_001297417.4:c.119T>C NP_001284346.2:p.Met40Thr