Canonical Allele Identifier: CA359387315

Gene: SLC45A2

Linked Data

• MyVariant Identifiers: chr5:g.33944904C>A (hg19) ; chr5:g.33944799C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33944799C>A , CM000667.2:g.33944799C>A	GRCh38
NC_000005.9:g.33944904C>A , CM000667.1:g.33944904C>A	GRCh37
NC_000005.8:g.33980661C>A	NCBI36
NG_011691.2:g.44877G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1442G>T MANE Select	ENSP00000296589.4:p.Cys481Phe
ENST00000296589.8:c.1442G>T	ENSP00000296589.4:p.Cys481Phe
NM_016180.4:c.1442G>T	NP_057264.3:p.Cys481Phe
XM_011514051.1:c.1040G>T	XP_011512353.1:p.Cys347Phe
NM_016180.5:c.1442G>T MANE Select	NP_057264.4:p.Cys481Phe