Canonical Allele Identifier: CA2024298

Gene: SLC40A1

Linked Data

• dbSNP Id: rs769877276
• ExAC: 2:190440074 T / C
• gnomAD v2: 2-190440074-T-C
• gnomAD v4: 2-189575348-T-C
• MyVariant Identifiers: chr2:g.190440074T>C (hg19) ; chr2:g.189575348T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189575348T>C , CM000664.2:g.189575348T>C	GRCh38
NC_000002.11:g.190440074T>C , CM000664.1:g.190440074T>C	GRCh37
NC_000002.10:g.190148319T>C	NCBI36
NG_009027.1:g.10464A>G , LRG_837:g.10464A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.112-28A>G MANE Select	ENSP00000261024.3:n.112-28A>G
ENST00000261024.6:c.112-28A>G	ENSP00000261024.2:n.112-28A>G
ENST00000418714.1:n.553-28A>G
ENST00000427241.5:c.112-28A>G	ENSP00000390005.1:n.112-28A>G
ENST00000455320.5:c.112-28A>G	ENSP00000413549.1:n.112-28A>G
ENST00000479598.5:n.393-28A>G
NM_014585.5:c.112-28A>G , LRG_837t1:c.112-28A>G	NP_055400.1:n.112-28A>G
XM_005246505.1:c.-9-28A>G	XP_005246562.1:n.-9-28A>G
XM_005246505.2:c.-9-28A>G	XP_005246562.1:n.-9-28A>G
XM_017003938.2:c.-9-28A>G	XP_016859427.1:n.-9-28A>G
NM_014585.6:c.112-28A>G MANE Select	NP_055400.1:n.112-28A>G