Canonical Allele Identifier: CA359387269

Gene: SLC45A2

Linked Data

• MyVariant Identifiers: chr5:g.33944895T>G (hg19) ; chr5:g.33944790T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33944790T>G , CM000667.2:g.33944790T>G	GRCh38
NC_000005.9:g.33944895T>G , CM000667.1:g.33944895T>G	GRCh37
NC_000005.8:g.33980652T>G	NCBI36
NG_011691.2:g.44886A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1451A>C MANE Select	ENSP00000296589.4:p.Gln484Pro
ENST00000296589.8:c.1451A>C	ENSP00000296589.4:p.Gln484Pro
NM_016180.4:c.1451A>C	NP_057264.3:p.Gln484Pro
XM_011514051.1:c.1049A>C	XP_011512353.1:p.Gln350Pro
NM_016180.5:c.1451A>C MANE Select	NP_057264.4:p.Gln484Pro