Canonical Allele Identifier: CA359387275
Gene: SLC45A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2127272
ClinVar RCV Id: RCV003047705
MyVariant Identifiers: chr5:g.33944896G>A (hg19) chr5:g.33944791G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33944791G>A , CM000667.2:g.33944791G>A GRCh38
NC_000005.9:g.33944896G>A , CM000667.1:g.33944896G>A GRCh37
NC_000005.8:g.33980653G>A NCBI36
NG_011691.2:g.44885C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.1450C>T MANE Select ENSP00000296589.4:p.Gln484Ter
ENST00000296589.8:c.1450C>T ENSP00000296589.4:p.Gln484Ter
NM_016180.4:c.1450C>T NP_057264.3:p.Gln484Ter
XM_011514051.1:c.1048C>T XP_011512353.1:p.Gln350Ter
NM_016180.5:c.1450C>T MANE Select NP_057264.4:p.Gln484Ter
Search 100 bp 5'
Search 100 bp 3'