Canonical Allele Identifier: CA443803179

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 2113002
• ClinVar RCV Id: RCV003027102
• dbSNP Id: rs781035843
• gnomAD v4: 5-33963948-A-G
• MyVariant Identifiers: chr5:g.33964053A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33963948A>G , CM000667.2:g.33963948A>G	GRCh38
NC_000005.9:g.33964053A>G , CM000667.1:g.33964053A>G	GRCh37
NC_000005.8:g.33999810A>G	NCBI36
NG_011691.2:g.25728T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.631T>C MANE Select	ENSP00000296589.4:p.Leu211=
ENST00000296589.8:c.631T>C	ENSP00000296589.4:p.Leu211=
ENST00000382102.7:c.631T>C	ENSP00000371534.3:p.Leu211=
ENST00000505056.1:n.433T>C
ENST00000509381.1:c.563-9444T>C	ENSP00000421100.1:n.563-9444T>C
ENST00000510600.1:c.106T>C	ENSP00000424010.1:p.Leu36=
NM_001012509.3:c.631T>C	NP_001012527.1:p.Leu211=
NM_001297417.2:c.563-9444T>C	NP_001284346.2:n.563-9444T>C
NM_016180.4:c.631T>C	NP_057264.3:p.Leu211=
XM_011514051.1:c.229T>C	XP_011512353.1:p.Leu77=
XM_011514052.1:c.631T>C	XP_011512354.1:p.Leu211=
XR_925620.1:n.1448T>C
NM_016180.5:c.631T>C MANE Select	NP_057264.4:p.Leu211=
NM_001012509.4:c.631T>C	NP_001012527.2:p.Leu211=
NM_001297417.3:c.563-9444T>C	NP_001284346.2:n.563-9444T>C
NM_001297417.4:c.563-9444T>C	NP_001284346.2:n.563-9444T>C