Canonical Allele Identifier: CA349987961
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs1405528868
gnomAD v2: 2-190428718-C-T
gnomAD v4: 2-189563992-C-T
COSMIC: COSM1014002
MyVariant Identifiers: chr2:g.190428718C>T (hg19) chr2:g.189563992C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563992C>T , CM000664.2:g.189563992C>T GRCh38
NC_000002.11:g.190428718C>T , CM000664.1:g.190428718C>T GRCh37
NC_000002.10:g.190136963C>T NCBI36
NG_009027.1:g.21820G>A , LRG_837:g.21820G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.994G>A MANE Select ENSP00000261024.3:p.Ala332Thr
ENST00000261024.6:c.994G>A ENSP00000261024.2:p.Ala332Thr
NM_014585.5:c.994G>A , LRG_837t1:c.994G>A NP_055400.1:p.Ala332Thr
XM_005246505.1:c.874G>A XP_005246562.1:p.Ala292Thr
XM_005246505.2:c.874G>A XP_005246562.1:p.Ala292Thr
XM_017003938.2:c.874G>A XP_016859427.1:p.Ala292Thr
NM_014585.6:c.994G>A MANE Select NP_055400.1:p.Ala332Thr
Search 100 bp 5'
Search 100 bp 3'