Canonical Allele Identifier: CA116903799

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 2734711
• ClinVar RCV Id: RCV003555181
• dbSNP Id: rs944029472
• gnomAD v2: 5-33984576-T-C
• gnomAD v3: 5-33984471-T-C
• gnomAD v4: 5-33984471-T-C
• MyVariant Identifiers: chr5:g.33984576T>C (hg19) ; chr5:g.33984471T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984471T>C , CM000667.2:g.33984471T>C	GRCh38
NC_000005.9:g.33984576T>C , CM000667.1:g.33984576T>C	GRCh37
NC_000005.8:g.34020333T>C	NCBI36
NG_011691.2:g.5205A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.113A>G MANE Select	ENSP00000296589.4:p.His38Arg
ENST00000296589.8:c.113A>G	ENSP00000296589.4:p.His38Arg
ENST00000382102.7:c.113A>G	ENSP00000371534.3:p.His38Arg
ENST00000505056.1:n.92A>G
ENST00000509381.1:c.113A>G	ENSP00000421100.1:p.His38Arg
NM_001012509.3:c.113A>G	NP_001012527.1:p.His38Arg
NM_001297417.2:c.113A>G	NP_001284346.2:p.His38Arg
NM_016180.4:c.113A>G	NP_057264.3:p.His38Arg
XM_011514052.1:c.113A>G	XP_011512354.1:p.His38Arg
XR_925620.1:n.674A>G
NM_016180.5:c.113A>G MANE Select	NP_057264.4:p.His38Arg
NM_001012509.4:c.113A>G	NP_001012527.2:p.His38Arg
NM_001297417.3:c.113A>G	NP_001284346.2:p.His38Arg
NM_001297417.4:c.113A>G	NP_001284346.2:p.His38Arg