Canonical Allele Identifier: CA349988018

Gene: SLC40A1

Linked Data

• ClinVar Variation Id: 986333
• ClinVar RCV Id: RCV001420135
• dbSNP Id: rs104893671
• MyVariant Identifiers: chr2:g.190428744C>T (hg19) ; chr2:g.189564018C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189564018C>T , CM000664.2:g.189564018C>T	GRCh38
NC_000002.11:g.190428744C>T , CM000664.1:g.190428744C>T	GRCh37
NC_000002.10:g.190136989C>T	NCBI36
NG_009027.1:g.21794G>A , LRG_837:g.21794G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.968G>A MANE Select	ENSP00000261024.3:p.Gly323Asp
ENST00000261024.6:c.968G>A	ENSP00000261024.2:p.Gly323Asp
NM_014585.5:c.968G>A , LRG_837t1:c.968G>A	NP_055400.1:p.Gly323Asp
XM_005246505.1:c.848G>A	XP_005246562.1:p.Gly283Asp
XM_005246505.2:c.848G>A	XP_005246562.1:p.Gly283Asp
XM_017003938.2:c.848G>A	XP_016859427.1:p.Gly283Asp
NM_014585.6:c.968G>A MANE Select	NP_055400.1:p.Gly323Asp