Canonical Allele Identifier: CA430503044
Gene: SLC40A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190428716G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563990G>T , CM000664.2:g.189563990G>T GRCh38
NC_000002.11:g.190428716G>T , CM000664.1:g.190428716G>T GRCh37
NC_000002.10:g.190136961G>T NCBI36
NG_009027.1:g.21822C>A , LRG_837:g.21822C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.996C>A MANE Select ENSP00000261024.3:p.Ala332=
ENST00000261024.6:c.996C>A ENSP00000261024.2:p.Ala332=
NM_014585.5:c.996C>A , LRG_837t1:c.996C>A NP_055400.1:p.Ala332=
XM_005246505.1:c.876C>A XP_005246562.1:p.Ala292=
XM_005246505.2:c.876C>A XP_005246562.1:p.Ala292=
XM_017003938.2:c.876C>A XP_016859427.1:p.Ala292=
NM_014585.6:c.996C>A MANE Select NP_055400.1:p.Ala332=
Search 100 bp 5'
Search 100 bp 3'