Canonical Allele Identifier: CA349988547

Gene: SLC40A1

Linked Data

• dbSNP Id: rs1245686098
• gnomAD v2: 2-190430105-T-G
• gnomAD v4: 2-189565379-T-G
• MyVariant Identifiers: chr2:g.190430105T>G (hg19) ; chr2:g.189565379T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189565379T>G , CM000664.2:g.189565379T>G	GRCh38
NC_000002.11:g.190430105T>G , CM000664.1:g.190430105T>G	GRCh37
NC_000002.10:g.190138350T>G	NCBI36
NG_009027.1:g.20433A>C , LRG_837:g.20433A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.735A>C MANE Select	ENSP00000261024.3:p.Glu245Asp
ENST00000261024.6:c.735A>C	ENSP00000261024.2:p.Glu245Asp
NM_014585.5:c.735A>C , LRG_837t1:c.735A>C	NP_055400.1:p.Glu245Asp
XM_005246505.1:c.615A>C	XP_005246562.1:p.Glu205Asp
XM_005246505.2:c.615A>C	XP_005246562.1:p.Glu205Asp
XM_017003938.2:c.615A>C	XP_016859427.1:p.Glu205Asp
NM_014585.6:c.735A>C MANE Select	NP_055400.1:p.Glu245Asp