Canonical Allele Identifier: CA443659605
Gene: SLC45A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.33964081G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33963976G>A , CM000667.2:g.33963976G>A GRCh38
NC_000005.9:g.33964081G>A , CM000667.1:g.33964081G>A GRCh37
NC_000005.8:g.33999838G>A NCBI36
NG_011691.2:g.25700C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.603C>T MANE Select ENSP00000296589.4:p.Asp201=
ENST00000296589.8:c.603C>T ENSP00000296589.4:p.Asp201=
ENST00000382102.7:c.603C>T ENSP00000371534.3:p.Asp201=
ENST00000505056.1:n.405C>T
ENST00000509381.1:c.563-9472C>T ENSP00000421100.1:n.563-9472C>T
ENST00000510600.1:c.78C>T ENSP00000424010.1:p.Asp26=
NM_001012509.3:c.603C>T NP_001012527.1:p.Asp201=
NM_001297417.2:c.563-9472C>T NP_001284346.2:n.563-9472C>T
NM_016180.4:c.603C>T NP_057264.3:p.Asp201=
XM_011514051.1:c.201C>T XP_011512353.1:p.Asp67=
XM_011514052.1:c.603C>T XP_011512354.1:p.Asp201=
XR_925620.1:n.1420C>T
NM_016180.5:c.603C>T MANE Select NP_057264.4:p.Asp201=
NM_001012509.4:c.603C>T NP_001012527.2:p.Asp201=
NM_001297417.3:c.563-9472C>T NP_001284346.2:n.563-9472C>T
NM_001297417.4:c.563-9472C>T NP_001284346.2:n.563-9472C>T