Canonical Allele Identifier: CA116903650
Gene: SLC45A2 HGNC NCBI

Linked Data

dbSNP Id: rs778046679
gnomAD v4: 5-33984387-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33984387G>A , CM000667.2:g.33984387G>A GRCh38
NC_000005.9:g.33984492G>A , CM000667.1:g.33984492G>A GRCh37
NC_000005.8:g.34020249G>A NCBI36
NG_011691.2:g.5289C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.197C>T MANE Select ENSP00000296589.4:p.Pro66Leu
ENST00000296589.8:c.197C>T ENSP00000296589.4:p.Pro66Leu
ENST00000382102.7:c.197C>T ENSP00000371534.3:p.Pro66Leu
ENST00000505056.1:n.176C>T
ENST00000509381.1:c.197C>T ENSP00000421100.1:p.Pro66Leu
NM_001012509.3:c.197C>T NP_001012527.1:p.Pro66Leu
NM_001297417.2:c.197C>T NP_001284346.2:p.Pro66Leu
NM_016180.4:c.197C>T NP_057264.3:p.Pro66Leu
XM_011514052.1:c.197C>T XP_011512354.1:p.Pro66Leu
XR_925620.1:n.758C>T
NM_016180.5:c.197C>T MANE Select NP_057264.4:p.Pro66Leu
NM_001012509.4:c.197C>T NP_001012527.2:p.Pro66Leu
NM_001297417.3:c.197C>T NP_001284346.2:p.Pro66Leu
NM_001297417.4:c.197C>T NP_001284346.2:p.Pro66Leu