Canonical Allele Identifier: CA349989765

Gene: SLC40A1

Linked Data

• ClinVar Variation Id: 2575390
• ClinVar RCV Id: RCV003320965
• MyVariant Identifiers: chr2:g.190439971C>T (hg19) ; chr2:g.189575245C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189575245C>T , CM000664.2:g.189575245C>T	GRCh38
NC_000002.11:g.190439971C>T , CM000664.1:g.190439971C>T	GRCh37
NC_000002.10:g.190148216C>T	NCBI36
NG_009027.1:g.10567G>A , LRG_837:g.10567G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.187G>A MANE Select	ENSP00000261024.3:p.Val63Ile
ENST00000261024.6:c.187G>A	ENSP00000261024.2:p.Val63Ile
ENST00000418714.1:n.628G>A
ENST00000427241.5:c.187G>A	ENSP00000390005.1:p.Val63Ile
ENST00000479598.5:n.468G>A
NM_014585.5:c.187G>A , LRG_837t1:c.187G>A	NP_055400.1:p.Val63Ile
XM_005246505.1:c.67G>A	XP_005246562.1:p.Val23Ile
XM_005246505.2:c.67G>A	XP_005246562.1:p.Val23Ile
XM_017003938.2:c.67G>A	XP_016859427.1:p.Val23Ile
NM_014585.6:c.187G>A MANE Select	NP_055400.1:p.Val63Ile