Canonical Allele Identifier: CA116903473
Gene: SLC45A2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.33984283G>A
GRCh37 chr5:g.33984388G>A
Revel Score:
ENST00000296589 (MANE Select) 0.851
ENST00000342059 0.851
ENST00000382102 0.851
ENST00000509381 0.851
ENST00000345083 0.851
gnomAD v2:
5:33984388 G / A
gnomAD v3:
5:33984283 G / A
gnomAD v4:
chr5-33984283-G-A
Joint Max Group AF 0.00001063 (AFR)
Genomes Max Group AF 0.00001919 (AFR)
Exomes Max Group AF 0.00000132 (NFE)
ClinVar Allele:
1405547
ClinVar RCV:
RCV001899095
RCV002507011
ClinVar Variation:
1404786
dbSNP:
779436059
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33984283G>A , CM000667.2:g.33984283G>A GRCh38
NC_000005.9:g.33984388G>A , CM000667.1:g.33984388G>A GRCh37
NC_000005.8:g.34020145G>A NCBI36
NG_011691.2:g.5393C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.301C>T MANE Select ENSP00000296589.4:p.Arg101Cys
ENST00000296589.8:c.301C>T ENSP00000296589.4:p.Arg101Cys
ENST00000382102.7:c.301C>T ENSP00000371534.3:p.Arg101Cys
ENST00000505056.1:n.280C>T
ENST00000509381.1:c.301C>T ENSP00000421100.1:p.Arg101Cys
NM_001012509.3:c.301C>T NP_001012527.1:p.Arg101Cys
NM_001297417.2:c.301C>T NP_001284346.2:p.Arg101Cys
NM_016180.4:c.301C>T NP_057264.3:p.Arg101Cys
XM_011514052.1:c.301C>T XP_011512354.1:p.Arg101Cys
XR_925620.1:n.862C>T
NM_016180.5:c.301C>T MANE Select NP_057264.4:p.Arg101Cys
NM_001012509.4:c.301C>T NP_001012527.2:p.Arg101Cys
NM_001297417.3:c.301C>T NP_001284346.2:p.Arg101Cys
NM_001297417.4:c.301C>T NP_001284346.2:p.Arg101Cys
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