Canonical Allele Identifier: CA359387258

Gene: SLC45A2

Linked Data

• MyVariant Identifiers: chr5:g.33944892A>T (hg19) ; chr5:g.33944787A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33944787A>T , CM000667.2:g.33944787A>T	GRCh38
NC_000005.9:g.33944892A>T , CM000667.1:g.33944892A>T	GRCh37
NC_000005.8:g.33980649A>T	NCBI36
NG_011691.2:g.44889T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1454T>A MANE Select	ENSP00000296589.4:p.Leu485Gln
ENST00000296589.8:c.1454T>A	ENSP00000296589.4:p.Leu485Gln
NM_016180.4:c.1454T>A	NP_057264.3:p.Leu485Gln
XM_011514051.1:c.1052T>A	XP_011512353.1:p.Leu351Gln
NM_016180.5:c.1454T>A MANE Select	NP_057264.4:p.Leu485Gln