Canonical Allele Identifier: CA349987857
Gene: SLC40A1 HGNC NCBI

Linked Data

gnomAD v4: 2-189563946-C-G
MyVariant Identifiers: chr2:g.190428672C>G (hg19) chr2:g.189563946C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189563946C>G , CM000664.2:g.189563946C>G GRCh38
NC_000002.11:g.190428672C>G , CM000664.1:g.190428672C>G GRCh37
NC_000002.10:g.190136917C>G NCBI36
NG_009027.1:g.21866G>C , LRG_837:g.21866G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261024.7:c.1040G>C MANE Select ENSP00000261024.3:p.Gly347Ala
ENST00000261024.6:c.1040G>C ENSP00000261024.2:p.Gly347Ala
NM_014585.5:c.1040G>C , LRG_837t1:c.1040G>C NP_055400.1:p.Gly347Ala
XM_005246505.1:c.920G>C XP_005246562.1:p.Gly307Ala
XM_005246505.2:c.920G>C XP_005246562.1:p.Gly307Ala
XM_017003938.2:c.920G>C XP_016859427.1:p.Gly307Ala
NM_014585.6:c.1040G>C MANE Select NP_055400.1:p.Gly347Ala
Search 100 bp 5'
Search 100 bp 3'