Canonical Allele Identifier: CA349987932

Gene: SLC40A1

Linked Data

• ClinVar Variation Id: 2761379
• ClinVar RCV Id: RCV003504993
• MyVariant Identifiers: chr2:g.190428706C>T (hg19) ; chr2:g.189563980C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189563980C>T , CM000664.2:g.189563980C>T	GRCh38
NC_000002.11:g.190428706C>T , CM000664.1:g.190428706C>T	GRCh37
NC_000002.10:g.190136951C>T	NCBI36
NG_009027.1:g.21832G>A , LRG_837:g.21832G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.1006G>A MANE Select	ENSP00000261024.3:p.Gly336Arg
ENST00000261024.6:c.1006G>A	ENSP00000261024.2:p.Gly336Arg
NM_014585.5:c.1006G>A , LRG_837t1:c.1006G>A	NP_055400.1:p.Gly336Arg
XM_005246505.1:c.886G>A	XP_005246562.1:p.Gly296Arg
XM_005246505.2:c.886G>A	XP_005246562.1:p.Gly296Arg
XM_017003938.2:c.886G>A	XP_016859427.1:p.Gly296Arg
NM_014585.6:c.1006G>A MANE Select	NP_055400.1:p.Gly336Arg