Canonical Allele Identifier: CA349988533

Gene: SLC40A1

Linked Data

• MyVariant Identifiers: chr2:g.190430100T>C (hg19) ; chr2:g.189565374T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189565374T>C , CM000664.2:g.189565374T>C	GRCh38
NC_000002.11:g.190430100T>C , CM000664.1:g.190430100T>C	GRCh37
NC_000002.10:g.190138345T>C	NCBI36
NG_009027.1:g.20438A>G , LRG_837:g.20438A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.740A>G MANE Select	ENSP00000261024.3:p.Lys247Arg
ENST00000261024.6:c.740A>G	ENSP00000261024.2:p.Lys247Arg
NM_014585.5:c.740A>G , LRG_837t1:c.740A>G	NP_055400.1:p.Lys247Arg
XM_005246505.1:c.620A>G	XP_005246562.1:p.Lys207Arg
XM_005246505.2:c.620A>G	XP_005246562.1:p.Lys207Arg
XM_017003938.2:c.620A>G	XP_016859427.1:p.Lys207Arg
NM_014585.6:c.740A>G MANE Select	NP_055400.1:p.Lys247Arg