Canonical Allele Identifier: CA359387322

Gene: SLC45A2

Linked Data

• MyVariant Identifiers: chr5:g.33944905A>T (hg19) ; chr5:g.33944800A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33944800A>T , CM000667.2:g.33944800A>T	GRCh38
NC_000005.9:g.33944905A>T , CM000667.1:g.33944905A>T	GRCh37
NC_000005.8:g.33980662A>T	NCBI36
NG_011691.2:g.44876T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1441T>A MANE Select	ENSP00000296589.4:p.Cys481Ser
ENST00000296589.8:c.1441T>A	ENSP00000296589.4:p.Cys481Ser
NM_016180.4:c.1441T>A	NP_057264.3:p.Cys481Ser
XM_011514051.1:c.1039T>A	XP_011512353.1:p.Cys347Ser
NM_016180.5:c.1441T>A MANE Select	NP_057264.4:p.Cys481Ser