Canonical Allele Identifier: CA443658871
Gene: SLC45A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr5:g.33944897C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33944792C>T , CM000667.2:g.33944792C>T GRCh38
NC_000005.9:g.33944897C>T , CM000667.1:g.33944897C>T GRCh37
NC_000005.8:g.33980654C>T NCBI36
NG_011691.2:g.44884G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.1449G>A MANE Select ENSP00000296589.4:p.Val483=
ENST00000296589.8:c.1449G>A ENSP00000296589.4:p.Val483=
NM_016180.4:c.1449G>A NP_057264.3:p.Val483=
XM_011514051.1:c.1047G>A XP_011512353.1:p.Val349=
NM_016180.5:c.1449G>A MANE Select NP_057264.4:p.Val483=