Canonical Allele Identifier: CA349988555

Gene: SLC40A1

Linked Data

• MyVariant Identifiers: chr2:g.190430109G>C (hg19) ; chr2:g.189565383G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189565383G>C , CM000664.2:g.189565383G>C	GRCh38
NC_000002.11:g.190430109G>C , CM000664.1:g.190430109G>C	GRCh37
NC_000002.10:g.190138354G>C	NCBI36
NG_009027.1:g.20429C>G , LRG_837:g.20429C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.731C>G MANE Select	ENSP00000261024.3:p.Thr244Ser
ENST00000261024.6:c.731C>G	ENSP00000261024.2:p.Thr244Ser
NM_014585.5:c.731C>G , LRG_837t1:c.731C>G	NP_055400.1:p.Thr244Ser
XM_005246505.1:c.611C>G	XP_005246562.1:p.Thr204Ser
XM_005246505.2:c.611C>G	XP_005246562.1:p.Thr204Ser
XM_017003938.2:c.611C>G	XP_016859427.1:p.Thr204Ser
NM_014585.6:c.731C>G MANE Select	NP_055400.1:p.Thr244Ser