Canonical Allele Identifier: CA1040450145

Gene: SLC40A1

Linked Data

• dbSNP Id: rs2030916303
• gnomAD v3: 2-189565622-C-T
• gnomAD v4: 2-189565622-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189565622C>T , CM000664.2:g.189565622C>T	GRCh38
NC_000002.11:g.190430348C>T , CM000664.1:g.190430348C>T	GRCh37
NC_000002.10:g.190138593C>T	NCBI36
NG_009027.1:g.20190G>A , LRG_837:g.20190G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.515-23G>A MANE Select	ENSP00000261024.3:n.515-23G>A
ENST00000261024.6:c.515-23G>A	ENSP00000261024.2:n.515-23G>A
ENST00000427241.5:c.515-23G>A	ENSP00000390005.1:n.515-23G>A
NM_014585.5:c.515-23G>A , LRG_837t1:c.515-23G>A	NP_055400.1:n.515-23G>A
XM_005246505.1:c.395-23G>A	XP_005246562.1:n.395-23G>A
XM_005246505.2:c.395-23G>A	XP_005246562.1:n.395-23G>A
XM_017003938.2:c.395-23G>A	XP_016859427.1:n.395-23G>A
NM_014585.6:c.515-23G>A MANE Select	NP_055400.1:n.515-23G>A