Canonical Allele Identifier: CA349989223

Gene: SLC40A1

Linked Data

• ClinVar Variation Id: 801843
• ClinVar RCV Id: RCV001858656
• dbSNP Id: rs104893662
• gnomAD v4: 2-189571799-T-C
• MyVariant Identifiers: chr2:g.190436525T>C (hg19) ; chr2:g.189571799T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189571799T>C , CM000664.2:g.189571799T>C	GRCh38
NC_000002.11:g.190436525T>C , CM000664.1:g.190436525T>C	GRCh37
NC_000002.10:g.190144770T>C	NCBI36
NG_009027.1:g.14013A>G , LRG_837:g.14013A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261024.7:c.430A>G MANE Select	ENSP00000261024.3:p.Asn144Asp
ENST00000261024.6:c.430A>G	ENSP00000261024.2:p.Asn144Asp
ENST00000427241.5:c.430A>G	ENSP00000390005.1:p.Asn144Asp
NM_014585.5:c.430A>G , LRG_837t1:c.430A>G	NP_055400.1:p.Asn144Asp
XM_005246505.1:c.310A>G	XP_005246562.1:p.Asn104Asp
XM_005246505.2:c.310A>G	XP_005246562.1:p.Asn104Asp
XM_017003938.2:c.310A>G	XP_016859427.1:p.Asn104Asp
NM_014585.6:c.430A>G MANE Select	NP_055400.1:p.Asn144Asp