Canonical Allele Identifier: CA359396670

Gene: SLC45A2

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33982329C>G , CM000667.2:g.33982329C>G	GRCh38
NC_000005.9:g.33982434C>G , CM000667.1:g.33982434C>G	GRCh37
NC_000005.8:g.34018191C>G	NCBI36
NG_011691.2:g.7347G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.469G>C MANE Select	ENSP00000296589.4:p.Asp157His
ENST00000296589.8:c.469G>C	ENSP00000296589.4:p.Asp157His
ENST00000382102.7:c.469G>C	ENSP00000371534.3:p.Asp157His
ENST00000505056.1:n.364+1870G>C
ENST00000509381.1:c.469G>C	ENSP00000421100.1:p.Asp157His
ENST00000510600.1:c.37+1870G>C	ENSP00000424010.1:n.37+1870G>C
NM_001012509.3:c.469G>C	NP_001012527.1:p.Asp157His
NM_001297417.2:c.469G>C	NP_001284346.2:p.Asp157His
NM_016180.4:c.469G>C	NP_057264.3:p.Asp157His
XM_011514052.1:c.469G>C	XP_011512354.1:p.Asp157His
XR_925620.1:n.1030G>C
NM_016180.5:c.469G>C MANE Select	NP_057264.4:p.Asp157His
NM_001012509.4:c.469G>C	NP_001012527.2:p.Asp157His
NM_001297417.3:c.469G>C	NP_001284346.2:p.Asp157His
NM_001297417.4:c.469G>C	NP_001284346.2:p.Asp157His