Canonical Allele Identifier: CA359390195

Gene: SLC45A2

Linked Data

• MyVariant Identifiers: chr5:g.33951779C>T (hg19) ; chr5:g.33951674C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33951674C>T , CM000667.2:g.33951674C>T	GRCh38
NC_000005.9:g.33951779C>T , CM000667.1:g.33951779C>T	GRCh37
NC_000005.8:g.33987536C>T	NCBI36
NG_011691.2:g.38002G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1036G>A MANE Select	ENSP00000296589.4:p.Val346Met
ENST00000296589.8:c.1036G>A	ENSP00000296589.4:p.Val346Met
ENST00000382102.7:c.1036G>A	ENSP00000371534.3:p.Val346Met
ENST00000509381.1:c.710G>A	ENSP00000421100.1:p.Cys237Tyr
ENST00000510600.1:c.511G>A	ENSP00000424010.1:p.Val171Met
NM_001012509.3:c.1036G>A	NP_001012527.1:p.Val346Met
NM_001297417.2:c.710G>A	NP_001284346.2:p.Cys237Tyr
NM_016180.4:c.1036G>A	NP_057264.3:p.Val346Met
XM_011514051.1:c.634G>A	XP_011512353.1:p.Val212Met
XR_925620.1:n.1853G>A
NM_016180.5:c.1036G>A MANE Select	NP_057264.4:p.Val346Met
NM_001012509.4:c.1036G>A	NP_001012527.2:p.Val346Met
NM_001297417.3:c.710G>A	NP_001284346.2:p.Cys237Tyr
NM_001297417.4:c.710G>A	NP_001284346.2:p.Cys237Tyr