Canonical Allele Identifier: CA443658872
Gene: SLC45A2 HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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