Canonical Allele Identifier: CA116871857
Gene: SLC45A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3164883
ClinVar RCV Id: RCV004461753
dbSNP Id: rs928474154
gnomAD v3: 5-33944794-C-G
gnomAD v4: 5-33944794-C-G
MyVariant Identifiers: chr5:g.33944899C>G (hg19) chr5:g.33944794C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33944794C>G , CM000667.2:g.33944794C>G GRCh38
NC_000005.9:g.33944899C>G , CM000667.1:g.33944899C>G GRCh37
NC_000005.8:g.33980656C>G NCBI36
NG_011691.2:g.44882G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.1447G>C MANE Select ENSP00000296589.4:p.Val483Leu
ENST00000296589.8:c.1447G>C ENSP00000296589.4:p.Val483Leu
NM_016180.4:c.1447G>C NP_057264.3:p.Val483Leu
XM_011514051.1:c.1045G>C XP_011512353.1:p.Val349Leu
NM_016180.5:c.1447G>C MANE Select NP_057264.4:p.Val483Leu
Search 100 bp 5'
Search 100 bp 3'