Canonical Allele Identifier: CA359389779
Gene: SLC45A2 HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.33951588C>A
GRCh37 chr5:g.33951693C>A
Revel Score:
ENST00000296589 (MANE Select) 0.698
ENST00000342059 0.698
ENST00000382102 0.698
ENST00000510600 0.698
ENST00000345083 0.698
gnomAD v3:
5:33951588 C / A
gnomAD v4:
chr5-33951588-C-A
Joint Max Group AF 2.8e-7 (NFE)
dbSNP:
16891982
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33951588C>A , CM000667.2:g.33951588C>A GRCh38
NC_000005.9:g.33951693C>A , CM000667.1:g.33951693C>A GRCh37
NC_000005.8:g.33987450C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.1122G>T MANE Select ENSP00000296589.4:p.Leu374Phe
ENST00000296589.8:c.1122G>T ENSP00000296589.4:p.Leu374Phe
ENST00000382102.7:c.1122G>T ENSP00000371534.3:p.Leu374Phe
ENST00000509381.1:c.*64G>T ENSP00000421100.1:n.*64G>T
ENST00000510600.1:c.597G>T ENSP00000424010.1:p.Leu199Phe
XM_011514051.1:c.720G>T XP_011512353.1:p.Leu240Phe
XR_925620.1:n.1939G>T
NM_016180.5:c.1122G>T MANE Select NP_057264.4:p.Leu374Phe
NM_001012509.4:c.1122G>T NP_001012527.2:p.Leu374Phe
NM_001297417.3:c.*64G>T NP_001284346.2:n.*64G>T
NM_001297417.4:c.*64G>T NP_001284346.2:n.*64G>T
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