Canonical Allele Identifier: CA2024200

Gene: SLC40A1

Linked Data

• ClinVar Variation Id: 2888963
• ClinVar RCV Id: RCV003615165
• dbSNP Id: rs762788153
• ExAC: 2:190430315 G / A
• gnomAD v2: 2-190430315-G-A
• gnomAD v3: 2-189565589-G-A
• gnomAD v4: 2-189565589-G-A
• MyVariant Identifiers: chr2:g.190430315G>A (hg19) ; chr2:g.189565589G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189565589G>A , CM000664.2:g.189565589G>A	GRCh38
NC_000002.11:g.190430315G>A , CM000664.1:g.190430315G>A	GRCh37
NC_000002.10:g.190138560G>A	NCBI36
NG_009027.1:g.20223C>T , LRG_837:g.20223C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.525C>T MANE Select	ENSP00000261024.3:p.Ala175=
ENST00000261024.6:c.525C>T	ENSP00000261024.2:p.Ala175=
ENST00000427241.5:c.525C>T	ENSP00000390005.1:p.Ala175=
NM_014585.5:c.525C>T , LRG_837t1:c.525C>T	NP_055400.1:p.Ala175=
XM_005246505.1:c.405C>T	XP_005246562.1:p.Ala135=
XM_005246505.2:c.405C>T	XP_005246562.1:p.Ala135=
XM_017003938.2:c.405C>T	XP_016859427.1:p.Ala135=
NM_014585.6:c.525C>T MANE Select	NP_055400.1:p.Ala175=