Canonical Allele Identifier: CA430502855
Gene: SLC40A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190428554C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563828C>T , CM000664.2:g.189563828C>T GRCh38
NC_000002.11:g.190428554C>T , CM000664.1:g.190428554C>T GRCh37
NC_000002.10:g.190136799C>T NCBI36
NG_009027.1:g.21984G>A , LRG_837:g.21984G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.1158G>A MANE Select ENSP00000261024.3:p.Leu386=
ENST00000261024.6:c.1158G>A ENSP00000261024.2:p.Leu386=
NM_014585.5:c.1158G>A , LRG_837t1:c.1158G>A NP_055400.1:p.Leu386=
XM_005246505.1:c.1038G>A XP_005246562.1:p.Leu346=
XM_005246505.2:c.1038G>A XP_005246562.1:p.Leu346=
XM_017003938.2:c.1038G>A XP_016859427.1:p.Leu346=
NM_014585.6:c.1158G>A MANE Select NP_055400.1:p.Leu386=
Search 100 bp 5'
Search 100 bp 3'