Canonical Allele Identifier: CA443658873
Gene: SLC45A2 HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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