Canonical Allele Identifier: CA349988131

Gene: SLC40A1

Linked Data

• COSMIC: COSM5036513
• MyVariant Identifiers: chr2:g.190428796G>T (hg19) ; chr2:g.189564070G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189564070G>T , CM000664.2:g.189564070G>T	GRCh38
NC_000002.11:g.190428796G>T , CM000664.1:g.190428796G>T	GRCh37
NC_000002.10:g.190137041G>T	NCBI36
NG_009027.1:g.21742C>A , LRG_837:g.21742C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.916C>A MANE Select	ENSP00000261024.3:p.Pro306Thr
ENST00000261024.6:c.916C>A	ENSP00000261024.2:p.Pro306Thr
NM_014585.5:c.916C>A , LRG_837t1:c.916C>A	NP_055400.1:p.Pro306Thr
XM_005246505.1:c.796C>A	XP_005246562.1:p.Pro266Thr
XM_005246505.2:c.796C>A	XP_005246562.1:p.Pro266Thr
XM_017003938.2:c.796C>A	XP_016859427.1:p.Pro266Thr
NM_014585.6:c.916C>A MANE Select	NP_055400.1:p.Pro306Thr