Canonical Allele Identifier: CA359397636

Gene: SLC45A2

Linked Data

• ClinVar Variation Id: 1349804
• ClinVar RCV Id: RCV002039277
• dbSNP Id: rs779099623
• gnomAD v2: 5-33984502-C-G
• gnomAD v3: 5-33984397-C-G
• gnomAD v4: 5-33984397-C-G
• MyVariant Identifiers: chr5:g.33984502C>G (hg19) ; chr5:g.33984397C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984397C>G , CM000667.2:g.33984397C>G	GRCh38
NC_000005.9:g.33984502C>G , CM000667.1:g.33984502C>G	GRCh37
NC_000005.8:g.34020259C>G	NCBI36
NG_011691.2:g.5279G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296589.9:c.187G>C MANE Select	ENSP00000296589.4:p.Val63Leu
ENST00000296589.8:c.187G>C	ENSP00000296589.4:p.Val63Leu
ENST00000382102.7:c.187G>C	ENSP00000371534.3:p.Val63Leu
ENST00000505056.1:n.166G>C
ENST00000509381.1:c.187G>C	ENSP00000421100.1:p.Val63Leu
NM_001012509.3:c.187G>C	NP_001012527.1:p.Val63Leu
NM_001297417.2:c.187G>C	NP_001284346.2:p.Val63Leu
NM_016180.4:c.187G>C	NP_057264.3:p.Val63Leu
XM_011514052.1:c.187G>C	XP_011512354.1:p.Val63Leu
XR_925620.1:n.748G>C
NM_016180.5:c.187G>C MANE Select	NP_057264.4:p.Val63Leu
NM_001012509.4:c.187G>C	NP_001012527.2:p.Val63Leu
NM_001297417.3:c.187G>C	NP_001284346.2:p.Val63Leu
NM_001297417.4:c.187G>C	NP_001284346.2:p.Val63Leu