Canonical Allele Identifier: CA359397763
Gene: SLC45A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1023874
ClinVar RCV Id: RCV001323984
dbSNP Id: rs1579564783
gnomAD v3: 5-33984458-C-A
gnomAD v4: 5-33984458-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33984458C>A , CM000667.2:g.33984458C>A GRCh38
NC_000005.9:g.33984563C>A , CM000667.1:g.33984563C>A GRCh37
NC_000005.8:g.34020320C>A NCBI36
NG_011691.2:g.5218G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.126G>T MANE Select ENSP00000296589.4:p.Met42Ile
ENST00000296589.8:c.126G>T ENSP00000296589.4:p.Met42Ile
ENST00000382102.7:c.126G>T ENSP00000371534.3:p.Met42Ile
ENST00000505056.1:n.105G>T
ENST00000509381.1:c.126G>T ENSP00000421100.1:p.Met42Ile
NM_001012509.3:c.126G>T NP_001012527.1:p.Met42Ile
NM_001297417.2:c.126G>T NP_001284346.2:p.Met42Ile
NM_016180.4:c.126G>T NP_057264.3:p.Met42Ile
XM_011514052.1:c.126G>T XP_011512354.1:p.Met42Ile
XR_925620.1:n.687G>T
NM_016180.5:c.126G>T MANE Select NP_057264.4:p.Met42Ile
NM_001012509.4:c.126G>T NP_001012527.2:p.Met42Ile
NM_001297417.3:c.126G>T NP_001284346.2:p.Met42Ile
NM_001297417.4:c.126G>T NP_001284346.2:p.Met42Ile