Canonical Allele Identifier: CA2673476856
Gene: SLC45A2 HGNC NCBI

Linked Data

gnomAD v4: 5-33951360-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.33951360T>A , CM000667.2:g.33951360T>A GRCh38
NC_000005.9:g.33951465T>A , CM000667.1:g.33951465T>A GRCh37
NC_000005.8:g.33987222T>A NCBI36
NG_011691.2:g.38316A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000296589.9:c.1156+194A>T MANE Select ENSP00000296589.4:n.1156+194A>T
ENST00000296589.8:c.1156+194A>T ENSP00000296589.4:n.1156+194A>T
ENST00000382102.7:c.1156+194A>T ENSP00000371534.3:n.1156+194A>T
ENST00000510600.1:c.631+194A>T ENSP00000424010.1:n.631+194A>T
NM_001012509.3:c.1156+194A>T NP_001012527.1:n.1156+194A>T
NM_016180.4:c.1156+194A>T NP_057264.3:n.1156+194A>T
XM_011514051.1:c.754+194A>T XP_011512353.1:n.754+194A>T
XR_925620.1:n.1973+194A>T
NM_016180.5:c.1156+194A>T MANE Select NP_057264.4:n.1156+194A>T
NM_001012509.4:c.1156+194A>T NP_001012527.2:n.1156+194A>T