Canonical Allele Identifier: CA349987854

Gene: SLC40A1

Linked Data

• dbSNP Id: rs2030843558
• gnomAD v3: 2-189563944-C-T
• gnomAD v4: 2-189563944-C-T
• MyVariant Identifiers: chr2:g.190428670C>T (hg19) ; chr2:g.189563944C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189563944C>T , CM000664.2:g.189563944C>T	GRCh38
NC_000002.11:g.190428670C>T , CM000664.1:g.190428670C>T	GRCh37
NC_000002.10:g.190136915C>T	NCBI36
NG_009027.1:g.21868G>A , LRG_837:g.21868G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261024.7:c.1042G>A MANE Select	ENSP00000261024.3:p.Ala348Thr
ENST00000261024.6:c.1042G>A	ENSP00000261024.2:p.Ala348Thr
NM_014585.5:c.1042G>A , LRG_837t1:c.1042G>A	NP_055400.1:p.Ala348Thr
XM_005246505.1:c.922G>A	XP_005246562.1:p.Ala308Thr
XM_005246505.2:c.922G>A	XP_005246562.1:p.Ala308Thr
XM_017003938.2:c.922G>A	XP_016859427.1:p.Ala308Thr
NM_014585.6:c.1042G>A MANE Select	NP_055400.1:p.Ala348Thr