Canonical Allele Identifier: CA349987636

Gene: SLC40A1

Linked Data

• ClinVar Variation Id: 986321
• ClinVar RCV Id: RCV001420123
• dbSNP Id: rs2105620216
• MyVariant Identifiers: chr2:g.190428561A>C (hg19) ; chr2:g.189563835A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189563835A>C , CM000664.2:g.189563835A>C	GRCh38
NC_000002.11:g.190428561A>C , CM000664.1:g.190428561A>C	GRCh37
NC_000002.10:g.190136806A>C	NCBI36
NG_009027.1:g.21977T>G , LRG_837:g.21977T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.1151T>G MANE Select	ENSP00000261024.3:p.Leu384Trp
ENST00000261024.6:c.1151T>G	ENSP00000261024.2:p.Leu384Trp
NM_014585.5:c.1151T>G , LRG_837t1:c.1151T>G	NP_055400.1:p.Leu384Trp
XM_005246505.1:c.1031T>G	XP_005246562.1:p.Leu344Trp
XM_005246505.2:c.1031T>G	XP_005246562.1:p.Leu344Trp
XM_017003938.2:c.1031T>G	XP_016859427.1:p.Leu344Trp
NM_014585.6:c.1151T>G MANE Select	NP_055400.1:p.Leu384Trp