Canonical Allele Identifier: CA1315653540
Gene: SLC40A1 HGNC NCBI

Linked Data

dbSNP Id: rs2031248802
gnomAD v4: 2-189575138-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189575138C>G , CM000664.2:g.189575138C>G GRCh38
NC_000002.11:g.190439864C>G , CM000664.1:g.190439864C>G GRCh37
NC_000002.10:g.190148109C>G NCBI36
NG_009027.1:g.10674G>C , LRG_837:g.10674G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261024.7:c.271+23G>C MANE Select ENSP00000261024.3:n.271+23G>C
ENST00000261024.6:c.271+23G>C ENSP00000261024.2:n.271+23G>C
ENST00000427241.5:c.271+23G>C ENSP00000390005.1:n.271+23G>C
ENST00000479598.5:n.552+23G>C
NM_014585.5:c.271+23G>C , LRG_837t1:c.271+23G>C NP_055400.1:n.271+23G>C
XM_005246505.1:c.151+23G>C XP_005246562.1:n.151+23G>C
XM_005246505.2:c.151+23G>C XP_005246562.1:n.151+23G>C
XM_017003938.2:c.151+23G>C XP_016859427.1:n.151+23G>C
NM_014585.6:c.271+23G>C MANE Select NP_055400.1:n.271+23G>C
Search 100 bp 5'
Search 100 bp 3'