Canonical Allele Identifier: CA359387291

Gene: SLC45A2

Linked Data

• MyVariant Identifiers: chr5:g.33944900C>A (hg19) ; chr5:g.33944795C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33944795C>A , CM000667.2:g.33944795C>A	GRCh38
NC_000005.9:g.33944900C>A , CM000667.1:g.33944900C>A	GRCh37
NC_000005.8:g.33980657C>A	NCBI36
NG_011691.2:g.44881G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1446G>T MANE Select	ENSP00000296589.4:p.Met482Ile
ENST00000296589.8:c.1446G>T	ENSP00000296589.4:p.Met482Ile
NM_016180.4:c.1446G>T	NP_057264.3:p.Met482Ile
XM_011514051.1:c.1044G>T	XP_011512353.1:p.Met348Ile
NM_016180.5:c.1446G>T MANE Select	NP_057264.4:p.Met482Ile