Canonical Allele Identifier: CA349987226

Gene: SLC40A1

Linked Data

• dbSNP Id: rs1469766783
• gnomAD v2: 2-190428367-A-G
• gnomAD v4: 2-189563641-A-G
• MyVariant Identifiers: chr2:g.190428367A>G (hg19) ; chr2:g.189563641A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189563641A>G , CM000664.2:g.189563641A>G	GRCh38
NC_000002.11:g.190428367A>G , CM000664.1:g.190428367A>G	GRCh37
NC_000002.10:g.190136612A>G	NCBI36
NG_009027.1:g.22171T>C , LRG_837:g.22171T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.1345T>C MANE Select	ENSP00000261024.3:p.Ser449Pro
ENST00000261024.6:c.1345T>C	ENSP00000261024.2:p.Ser449Pro
NM_014585.5:c.1345T>C , LRG_837t1:c.1345T>C	NP_055400.1:p.Ser449Pro
XM_005246505.1:c.1225T>C	XP_005246562.1:p.Ser409Pro
XM_005246505.2:c.1225T>C	XP_005246562.1:p.Ser409Pro
XM_017003938.2:c.1225T>C	XP_016859427.1:p.Ser409Pro
NM_014585.6:c.1345T>C MANE Select	NP_055400.1:p.Ser449Pro