Canonical Allele Identifier: CA359390170

Gene: SLC45A2

Linked Data

• dbSNP Id: rs1241168895
• gnomAD v2: 5-33951776-A-G
• gnomAD v4: 5-33951671-A-G
• MyVariant Identifiers: chr5:g.33951776A>G (hg19) ; chr5:g.33951671A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951671A>G , CM000667.2:g.33951671A>G	GRCh38
NC_000005.9:g.33951776A>G , CM000667.1:g.33951776A>G	GRCh37
NC_000005.8:g.33987533A>G	NCBI36
NG_011691.2:g.38005T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1039T>C MANE Select	ENSP00000296589.4:p.Tyr347His
ENST00000296589.8:c.1039T>C	ENSP00000296589.4:p.Tyr347His
ENST00000382102.7:c.1039T>C	ENSP00000371534.3:p.Tyr347His
ENST00000509381.1:c.713T>C	ENSP00000421100.1:p.Val238Ala
ENST00000510600.1:c.514T>C	ENSP00000424010.1:p.Tyr172His
NM_001012509.3:c.1039T>C	NP_001012527.1:p.Tyr347His
NM_001297417.2:c.713T>C	NP_001284346.2:p.Val238Ala
NM_016180.4:c.1039T>C	NP_057264.3:p.Tyr347His
XM_011514051.1:c.637T>C	XP_011512353.1:p.Tyr213His
XR_925620.1:n.1856T>C
NM_016180.5:c.1039T>C MANE Select	NP_057264.4:p.Tyr347His
NM_001012509.4:c.1039T>C	NP_001012527.2:p.Tyr347His
NM_001297417.3:c.713T>C	NP_001284346.2:p.Val238Ala
NM_001297417.4:c.713T>C	NP_001284346.2:p.Val238Ala