Canonical Allele Identifier: CA2024282

Gene: SLC40A1

Linked Data

• ClinVar Variation Id: 696708
• ClinVar RCV Id: RCV001139635
• dbSNP Id: rs763244873
• ExAC: 2:190439966 G / A
• gnomAD v2: 2-190439966-G-A
• gnomAD v3: 2-189575240-G-A
• gnomAD v4: 2-189575240-G-A
• MyVariant Identifiers: chr2:g.190439966G>A (hg19) ; chr2:g.189575240G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189575240G>A , CM000664.2:g.189575240G>A	GRCh38
NC_000002.11:g.190439966G>A , CM000664.1:g.190439966G>A	GRCh37
NC_000002.10:g.190148211G>A	NCBI36
NG_009027.1:g.10572C>T , LRG_837:g.10572C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.192C>T MANE Select	ENSP00000261024.3:p.Tyr64=
ENST00000261024.6:c.192C>T	ENSP00000261024.2:p.Tyr64=
ENST00000418714.1:n.633C>T
ENST00000427241.5:c.192C>T	ENSP00000390005.1:p.Tyr64=
ENST00000479598.5:n.473C>T
NM_014585.5:c.192C>T , LRG_837t1:c.192C>T	NP_055400.1:p.Tyr64=
XM_005246505.1:c.72C>T	XP_005246562.1:p.Tyr24=
XM_005246505.2:c.72C>T	XP_005246562.1:p.Tyr24=
XM_017003938.2:c.72C>T	XP_016859427.1:p.Tyr24=
NM_014585.6:c.192C>T MANE Select	NP_055400.1:p.Tyr64=