Canonical Allele Identifier: CA359390017

Gene: SLC45A2

Linked Data

• MyVariant Identifiers: chr5:g.33951752G>A (hg19) ; chr5:g.33951647G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951647G>A , CM000667.2:g.33951647G>A	GRCh38
NC_000005.9:g.33951752G>A , CM000667.1:g.33951752G>A	GRCh37
NC_000005.8:g.33987509G>A	NCBI36
NG_011691.2:g.38029C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1063C>T MANE Select	ENSP00000296589.4:p.His355Tyr
ENST00000296589.8:c.1063C>T	ENSP00000296589.4:p.His355Tyr
ENST00000382102.7:c.1063C>T	ENSP00000371534.3:p.His355Tyr
ENST00000509381.1:c.*5C>T	ENSP00000421100.1:n.*5C>T
ENST00000510600.1:c.538C>T	ENSP00000424010.1:p.His180Tyr
NM_001012509.3:c.1063C>T	NP_001012527.1:p.His355Tyr
NM_001297417.2:c.*5C>T	NP_001284346.2:n.*5C>T
NM_016180.4:c.1063C>T	NP_057264.3:p.His355Tyr
XM_011514051.1:c.661C>T	XP_011512353.1:p.His221Tyr
XR_925620.1:n.1880C>T
NM_016180.5:c.1063C>T MANE Select	NP_057264.4:p.His355Tyr
NM_001012509.4:c.1063C>T	NP_001012527.2:p.His355Tyr
NM_001297417.3:c.*5C>T	NP_001284346.2:n.*5C>T
NM_001297417.4:c.*5C>T	NP_001284346.2:n.*5C>T