Canonical Allele Identifier: CA359387314

Gene: SLC45A2

Linked Data

• MyVariant Identifiers: chr5:g.33944904C>G (hg19) ; chr5:g.33944799C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33944799C>G , CM000667.2:g.33944799C>G	GRCh38
NC_000005.9:g.33944904C>G , CM000667.1:g.33944904C>G	GRCh37
NC_000005.8:g.33980661C>G	NCBI36
NG_011691.2:g.44877G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.1442G>C MANE Select	ENSP00000296589.4:p.Cys481Ser
ENST00000296589.8:c.1442G>C	ENSP00000296589.4:p.Cys481Ser
NM_016180.4:c.1442G>C	NP_057264.3:p.Cys481Ser
XM_011514051.1:c.1040G>C	XP_011512353.1:p.Cys347Ser
NM_016180.5:c.1442G>C MANE Select	NP_057264.4:p.Cys481Ser