Canonical Allele Identifier: CA349989043
Gene: SLC40A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190436441T>G (hg19) chr2:g.189571715T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189571715T>G , CM000664.2:g.189571715T>G GRCh38
NC_000002.11:g.190436441T>G , CM000664.1:g.190436441T>G GRCh37
NC_000002.10:g.190144686T>G NCBI36
NG_009027.1:g.14097A>C , LRG_837:g.14097A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261024.7:c.514A>C MANE Select ENSP00000261024.3:p.Asn172His
ENST00000261024.6:c.514A>C ENSP00000261024.2:p.Asn172His
ENST00000427241.5:c.514A>C ENSP00000390005.1:p.Asn172His
NM_014585.5:c.514A>C , LRG_837t1:c.514A>C NP_055400.1:p.Asn172His
XM_005246505.1:c.394A>C XP_005246562.1:p.Asn132His
XM_005246505.2:c.394A>C XP_005246562.1:p.Asn132His
XM_017003938.2:c.394A>C XP_016859427.1:p.Asn132His
NM_014585.6:c.514A>C MANE Select NP_055400.1:p.Asn172His
Search 100 bp 5'
Search 100 bp 3'