Canonical Allele Identifier: CA203114
Gene: SLC45A2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 197829
ClinVar RCV Id: RCV000178963
dbSNP Id: rs16891982

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33951588C>G , CM000667.2:g.33951588C>G GRCh38
NC_000005.9:g.33951693C>G , CM000667.1:g.33951693C>G GRCh37
NC_000005.8:g.33987450C>G NCBI36
NG_011691.2:g.38088G>C

Transcript Alleles

HGVS Amino-acid change
NM_001012509.3:c.1122G>C VV NP_001012527.1:p.Phe374=
NM_001297417.2:c.*64G>C VV NP_001284346.2:p.=
NM_016180.4:c.1122G>C VV NP_057264.3:p.Phe374=
XM_011514051.1:c.720G>C XP_011512353.1:p.Leu240Phe
XR_925620.1:n.1939G>C
NM_016180.5:c.1122G>C VV MANE Preferred NP_057264.4:p.Leu374Phe
ENST00000296589.8:c.1122G>C ENSP00000296589.4:p.Leu374Phe
ENST00000382102.7:c.1122G>C ENSP00000371534.3:p.Leu374Phe
ENST00000509381.1:c.*64G>C ENSP00000421100.1:p.=
ENST00000510600.1:c.597G>C ENSP00000424010.1:p.Leu199Phe