Canonical Allele Identifier: CA3225870

Gene: SLC45A2

Linked Data

• dbSNP Id: rs139367018
• ExAC: 5:33984547 A / G
• gnomAD v2: 5-33984547-A-G
• gnomAD v3: 5-33984442-A-G
• gnomAD v4: 5-33984442-A-G
• MyVariant Identifiers: chr5:g.33984547A>G (hg19) ; chr5:g.33984442A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.33984442A>G , CM000667.2:g.33984442A>G	GRCh38
NC_000005.9:g.33984547A>G , CM000667.1:g.33984547A>G	GRCh37
NC_000005.8:g.34020304A>G	NCBI36
NG_011691.2:g.5234T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000296589.9:c.142T>C MANE Select	ENSP00000296589.4:p.Cys48Arg
ENST00000296589.8:c.142T>C	ENSP00000296589.4:p.Cys48Arg
ENST00000382102.7:c.142T>C	ENSP00000371534.3:p.Cys48Arg
ENST00000505056.1:n.121T>C
ENST00000509381.1:c.142T>C	ENSP00000421100.1:p.Cys48Arg
NM_001012509.3:c.142T>C	NP_001012527.1:p.Cys48Arg
NM_001297417.2:c.142T>C	NP_001284346.2:p.Cys48Arg
NM_016180.4:c.142T>C	NP_057264.3:p.Cys48Arg
XM_011514052.1:c.142T>C	XP_011512354.1:p.Cys48Arg
XR_925620.1:n.703T>C
NM_016180.5:c.142T>C MANE Select	NP_057264.4:p.Cys48Arg
NM_001012509.4:c.142T>C	NP_001012527.2:p.Cys48Arg
NM_001297417.3:c.142T>C	NP_001284346.2:p.Cys48Arg
NM_001297417.4:c.142T>C	NP_001284346.2:p.Cys48Arg