Canonical Allele Identifier: CA116903722

Gene: SLC45A2

Linked Data

• dbSNP Id: rs925113610
• gnomAD v2: 5-33984510-A-C
• gnomAD v4: 5-33984405-A-C
• MyVariant Identifiers: chr5:g.33984510A>C (hg19) ; chr5:g.33984405A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984405A>C , CM000667.2:g.33984405A>C	GRCh38
NC_000005.9:g.33984510A>C , CM000667.1:g.33984510A>C	GRCh37
NC_000005.8:g.34020267A>C	NCBI36
NG_011691.2:g.5271T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.179T>G MANE Select	ENSP00000296589.4:p.Leu60Arg
ENST00000296589.8:c.179T>G	ENSP00000296589.4:p.Leu60Arg
ENST00000382102.7:c.179T>G	ENSP00000371534.3:p.Leu60Arg
ENST00000505056.1:n.158T>G
ENST00000509381.1:c.179T>G	ENSP00000421100.1:p.Leu60Arg
NM_001012509.3:c.179T>G	NP_001012527.1:p.Leu60Arg
NM_001297417.2:c.179T>G	NP_001284346.2:p.Leu60Arg
NM_016180.4:c.179T>G	NP_057264.3:p.Leu60Arg
XM_011514052.1:c.179T>G	XP_011512354.1:p.Leu60Arg
XR_925620.1:n.740T>G
NM_016180.5:c.179T>G MANE Select	NP_057264.4:p.Leu60Arg
NM_001012509.4:c.179T>G	NP_001012527.2:p.Leu60Arg
NM_001297417.3:c.179T>G	NP_001284346.2:p.Leu60Arg
NM_001297417.4:c.179T>G	NP_001284346.2:p.Leu60Arg