Canonical Allele Identifier: CA62904025
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs1018605645
gnomAD v4: 2-189575079-A-T
MyVariant Identifiers: chr2:g.189575079A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189575079A>T , CM000664.2:g.189575079A>T GRCh38
NC_000002.11:g.190439805A>T , CM000664.1:g.190439805A>T GRCh37
NC_000002.10:g.190148050A>T NCBI36
NG_009027.1:g.10733T>A , LRG_837:g.10733T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000261024.7:c.271+82T>A MANE Select ENSP00000261024.3:n.271+82T>A
ENST00000261024.6:c.271+82T>A ENSP00000261024.2:n.271+82T>A
ENST00000427241.5:c.271+82T>A ENSP00000390005.1:n.271+82T>A
ENST00000479598.5:n.552+82T>A
NM_014585.5:c.271+82T>A , LRG_837t1:c.271+82T>A NP_055400.1:n.271+82T>A
XM_005246505.1:c.151+82T>A XP_005246562.1:n.151+82T>A
XM_005246505.2:c.151+82T>A XP_005246562.1:n.151+82T>A
XM_017003938.2:c.151+82T>A XP_016859427.1:n.151+82T>A
NM_014585.6:c.271+82T>A MANE Select NP_055400.1:n.271+82T>A
Search 100 bp 5'
Search 100 bp 3'