Canonical Allele Identifier: CA359387273
Gene: SLC45A2 HGNC NCBI

Linked Data

dbSNP Id: rs1476997838

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.1451A>G MANE Select ENSP00000296589.4:p.Gln484Arg
ENST00000296589.8:c.1451A>G ENSP00000296589.4:p.Gln484Arg
NM_016180.4:c.1451A>G NP_057264.3:p.Gln484Arg
XM_011514051.1:c.1049A>G XP_011512353.1:p.Gln350Arg
NM_016180.5:c.1451A>G MANE Select NP_057264.4:p.Gln484Arg