Canonical Allele Identifier: CA349989053

Gene: SLC40A1

Linked Data

• MyVariant Identifiers: chr2:g.190436447G>C (hg19) ; chr2:g.189571721G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189571721G>C , CM000664.2:g.189571721G>C	GRCh38
NC_000002.11:g.190436447G>C , CM000664.1:g.190436447G>C	GRCh37
NC_000002.10:g.190144692G>C	NCBI36
NG_009027.1:g.14091C>G , LRG_837:g.14091C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261024.7:c.508C>G MANE Select	ENSP00000261024.3:p.Leu170Val
ENST00000261024.6:c.508C>G	ENSP00000261024.2:p.Leu170Val
ENST00000427241.5:c.508C>G	ENSP00000390005.1:p.Leu170Val
NM_014585.5:c.508C>G , LRG_837t1:c.508C>G	NP_055400.1:p.Leu170Val
XM_005246505.1:c.388C>G	XP_005246562.1:p.Leu130Val
XM_005246505.2:c.388C>G	XP_005246562.1:p.Leu130Val
XM_017003938.2:c.388C>G	XP_016859427.1:p.Leu130Val
NM_014585.6:c.508C>G MANE Select	NP_055400.1:p.Leu170Val