Canonical Allele Identifier: CA407963605
Gene: SLC52A3 HGNC NCBI

Linked Data

dbSNP Id: rs1444386823
gnomAD v2: 20-745866-T-C
gnomAD v3: 20-765222-T-C
gnomAD v4: 20-765222-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.765222T>C , CM000682.2:g.765222T>C GRCh38
NC_000020.10:g.745866T>C , CM000682.1:g.745866T>C GRCh37
NC_000020.9:g.693866T>C NCBI36
NG_027687.1:g.8363A>G
NG_027687.2:g.15764A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000381944.5:c.553A>G ENSP00000371370.3:p.Thr185Ala
ENST00000473664.2:c.553A>G ENSP00000502741.1:p.Thr185Ala
ENST00000488495.3:c.553A>G ENSP00000494009.1:p.Thr185Ala
ENST00000645534.1:c.553A>G MANE Select ENSP00000494193.1:p.Thr185Ala
ENST00000675066.1:c.553A>G ENSP00000501902.1:p.Thr185Ala
ENST00000676154.1:c.553A>G ENSP00000501807.1:p.Thr185Ala
ENST00000217254.11:c.553A>G ENSP00000217254.7:p.Thr185Ala
ENST00000381944.4:c.553A>G ENSP00000371370.3:p.Thr185Ala
ENST00000473664.1:n.604A>G
ENST00000632431.1:c.553A>G ENSP00000488723.1:p.Thr185Ala
NM_033409.3:c.553A>G NP_212134.3:p.Thr185Ala
XM_005260655.3:c.553A>G XP_005260712.1:p.Thr185Ala
XM_011529148.1:c.553A>G XP_011527450.1:p.Thr185Ala
XM_005260655.4:c.553A>G XP_005260712.1:p.Thr185Ala
XM_024451821.1:c.553A>G XP_024307589.1:p.Thr185Ala
NM_033409.4:c.553A>G MANE Select NP_212134.3:p.Thr185Ala
NM_001370085.1:c.553A>G NP_001357014.1:p.Thr185Ala
NM_001370086.1:c.553A>G NP_001357015.1:p.Thr185Ala