Canonical Allele Identifier: CA349989865

Gene: SLC40A1

Linked Data

• ClinVar Variation Id: 827666
• ClinVar RCV Id: RCV001027529
• dbSNP Id: rs1574245587
• MyVariant Identifiers: chr2:g.190440019A>G (hg19) ; chr2:g.189575293A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189575293A>G , CM000664.2:g.189575293A>G	GRCh38
NC_000002.11:g.190440019A>G , CM000664.1:g.190440019A>G	GRCh37
NC_000002.10:g.190148264A>G	NCBI36
NG_009027.1:g.10519T>C , LRG_837:g.10519T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.139T>C MANE Select	ENSP00000261024.3:p.Ser47Pro
ENST00000261024.6:c.139T>C	ENSP00000261024.2:p.Ser47Pro
ENST00000418714.1:n.580T>C
ENST00000427241.5:c.139T>C	ENSP00000390005.1:p.Ser47Pro
ENST00000455320.5:c.139T>C	ENSP00000413549.1:p.Ser47Pro
ENST00000479598.5:n.420T>C
NM_014585.5:c.139T>C , LRG_837t1:c.139T>C	NP_055400.1:p.Ser47Pro
XM_005246505.1:c.19T>C	XP_005246562.1:p.Ser7Pro
XM_005246505.2:c.19T>C	XP_005246562.1:p.Ser7Pro
XM_017003938.2:c.19T>C	XP_016859427.1:p.Ser7Pro
NM_014585.6:c.139T>C MANE Select	NP_055400.1:p.Ser47Pro