Canonical Allele Identifier: CA359387309

Gene: SLC45A2

Linked Data

• MyVariant Identifiers: chr5:g.33944903G>T (hg19) ; chr5:g.33944798G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33944798G>T , CM000667.2:g.33944798G>T	GRCh38
NC_000005.9:g.33944903G>T , CM000667.1:g.33944903G>T	GRCh37
NC_000005.8:g.33980660G>T	NCBI36
NG_011691.2:g.44878C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1443C>A MANE Select	ENSP00000296589.4:p.Cys481Ter
ENST00000296589.8:c.1443C>A	ENSP00000296589.4:p.Cys481Ter
NM_016180.4:c.1443C>A	NP_057264.3:p.Cys481Ter
XM_011514051.1:c.1041C>A	XP_011512353.1:p.Cys347Ter
NM_016180.5:c.1443C>A MANE Select	NP_057264.4:p.Cys481Ter