Canonical Allele Identifier: CA62904048

Gene: SLC40A1

Linked Data

• dbSNP Id: rs112614767
• gnomAD v3: 2-189575334-A-G
• gnomAD v4: 2-189575334-A-G
• MyVariant Identifiers: chr2:g.190440060A>G (hg19) ; chr2:g.189575334A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189575334A>G , CM000664.2:g.189575334A>G	GRCh38
NC_000002.11:g.190440060A>G , CM000664.1:g.190440060A>G	GRCh37
NC_000002.10:g.190148305A>G	NCBI36
NG_009027.1:g.10478T>C , LRG_837:g.10478T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.112-14T>C MANE Select	ENSP00000261024.3:n.112-14T>C
ENST00000261024.6:c.112-14T>C	ENSP00000261024.2:n.112-14T>C
ENST00000418714.1:n.553-14T>C
ENST00000427241.5:c.112-14T>C	ENSP00000390005.1:n.112-14T>C
ENST00000455320.5:c.112-14T>C	ENSP00000413549.1:n.112-14T>C
ENST00000479598.5:n.393-14T>C
NM_014585.5:c.112-14T>C , LRG_837t1:c.112-14T>C	NP_055400.1:n.112-14T>C
XM_005246505.1:c.-9-14T>C	XP_005246562.1:n.-9-14T>C
XM_005246505.2:c.-9-14T>C	XP_005246562.1:n.-9-14T>C
XM_017003938.2:c.-9-14T>C	XP_016859427.1:n.-9-14T>C
NM_014585.6:c.112-14T>C MANE Select	NP_055400.1:n.112-14T>C