Canonical Allele Identifier: CA349988740

Gene: SLC40A1

Linked Data

• MyVariant Identifiers: chr2:g.190430193A>T (hg19) ; chr2:g.189565467A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189565467A>T , CM000664.2:g.189565467A>T	GRCh38
NC_000002.11:g.190430193A>T , CM000664.1:g.190430193A>T	GRCh37
NC_000002.10:g.190138438A>T	NCBI36
NG_009027.1:g.20345T>A , LRG_837:g.20345T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.647T>A MANE Select	ENSP00000261024.3:p.Met216Lys
ENST00000261024.6:c.647T>A	ENSP00000261024.2:p.Met216Lys
NM_014585.5:c.647T>A , LRG_837t1:c.647T>A	NP_055400.1:p.Met216Lys
XM_005246505.1:c.527T>A	XP_005246562.1:p.Met176Lys
XM_005246505.2:c.527T>A	XP_005246562.1:p.Met176Lys
XM_017003938.2:c.527T>A	XP_016859427.1:p.Met176Lys
NM_014585.6:c.647T>A MANE Select	NP_055400.1:p.Met216Lys