Canonical Allele Identifier: CA1011511449
Gene: SLC45A3 HGNC NCBI

Linked Data

dbSNP Id: rs1671160868
gnomAD v3: 1-205668899-A-T
gnomAD v4: 1-205668899-A-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.205668899A>T , CM000663.2:g.205668899A>T GRCh38
NC_000001.10:g.205638027A>T , CM000663.1:g.205638027A>T GRCh37
NC_000001.9:g.203904650A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000367145.4:c.-230-4013T>A MANE Select ENSP00000356113.3:n.-230-4013T>A
ENST00000367145.3:c.-230-4013T>A ENSP00000356113.3:n.-230-4013T>A
NM_033102.2:c.-230-4013T>A NP_149093.1:n.-230-4013T>A
XM_005245556.2:c.-231+796T>A XP_005245613.1:n.-231+796T>A
XM_005245557.3:c.-230-4013T>A XP_005245614.1:n.-230-4013T>A
XM_005245559.3:c.-231+3051T>A XP_005245616.1:n.-231+3051T>A
XM_005245560.2:c.-230-4013T>A XP_005245617.1:n.-230-4013T>A
NM_033102.3:c.-230-4013T>A MANE Select NP_149093.1:n.-230-4013T>A
Search 100 bp 5'
Search 100 bp 3'