Canonical Allele Identifier: CA359389856
Gene: SLC45A2 HGNC NCBI

Linked Data

dbSNP Id: rs1248209909
gnomAD v2: 5-33951712-T-A
gnomAD v3: 5-33951607-T-A
gnomAD v4: 5-33951607-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33951607T>A , CM000667.2:g.33951607T>A GRCh38
NC_000005.9:g.33951712T>A , CM000667.1:g.33951712T>A GRCh37
NC_000005.8:g.33987469T>A NCBI36
NG_011691.2:g.38069A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.1103A>T MANE Select ENSP00000296589.4:p.Glu368Val
ENST00000296589.8:c.1103A>T ENSP00000296589.4:p.Glu368Val
ENST00000382102.7:c.1103A>T ENSP00000371534.3:p.Glu368Val
ENST00000509381.1:c.*45A>T ENSP00000421100.1:n.*45A>T
ENST00000510600.1:c.578A>T ENSP00000424010.1:p.Glu193Val
NM_001012509.3:c.1103A>T NP_001012527.1:p.Glu368Val
NM_001297417.2:c.*45A>T NP_001284346.2:n.*45A>T
NM_016180.4:c.1103A>T NP_057264.3:p.Glu368Val
XM_011514051.1:c.701A>T XP_011512353.1:p.Glu234Val
XR_925620.1:n.1920A>T
NM_016180.5:c.1103A>T MANE Select NP_057264.4:p.Glu368Val
NM_001012509.4:c.1103A>T NP_001012527.2:p.Glu368Val
NM_001297417.3:c.*45A>T NP_001284346.2:n.*45A>T
NM_001297417.4:c.*45A>T NP_001284346.2:n.*45A>T