Canonical Allele Identifier: CA443872299

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 2989822
• ClinVar RCV Id: RCV003842453
• dbSNP Id: rs1361776663
• gnomAD v2: 5-33984440-C-T
• gnomAD v3: 5-33984335-C-T
• gnomAD v4: 5-33984335-C-T
• MyVariant Identifiers: chr5:g.33984440C>T (hg19) ; chr5:g.33984335C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984335C>T , CM000667.2:g.33984335C>T	GRCh38
NC_000005.9:g.33984440C>T , CM000667.1:g.33984440C>T	GRCh37
NC_000005.8:g.34020197C>T	NCBI36
NG_011691.2:g.5341G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.249G>A MANE Select	ENSP00000296589.4:p.Leu83=
ENST00000296589.8:c.249G>A	ENSP00000296589.4:p.Leu83=
ENST00000382102.7:c.249G>A	ENSP00000371534.3:p.Leu83=
ENST00000505056.1:n.228G>A
ENST00000509381.1:c.249G>A	ENSP00000421100.1:p.Leu83=
NM_001012509.3:c.249G>A	NP_001012527.1:p.Leu83=
NM_001297417.2:c.249G>A	NP_001284346.2:p.Leu83=
NM_016180.4:c.249G>A	NP_057264.3:p.Leu83=
XM_011514052.1:c.249G>A	XP_011512354.1:p.Leu83=
XR_925620.1:n.810G>A
NM_016180.5:c.249G>A MANE Select	NP_057264.4:p.Leu83=
NM_001012509.4:c.249G>A	NP_001012527.2:p.Leu83=
NM_001297417.3:c.249G>A	NP_001284346.2:p.Leu83=
NM_001297417.4:c.249G>A	NP_001284346.2:p.Leu83=