Canonical Allele Identifier: CA2024290

Gene: SLC40A1

Linked Data

• dbSNP Id: rs752405201
• ExAC: 2:190440024 G / A
• gnomAD v2: 2-190440024-G-A
• gnomAD v3: 2-189575298-G-A
• gnomAD v4: 2-189575298-G-A
• MyVariant Identifiers: chr2:g.190440024G>A (hg19) ; chr2:g.189575298G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189575298G>A , CM000664.2:g.189575298G>A	GRCh38
NC_000002.11:g.190440024G>A , CM000664.1:g.190440024G>A	GRCh37
NC_000002.10:g.190148269G>A	NCBI36
NG_009027.1:g.10514C>T , LRG_837:g.10514C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.134C>T MANE Select	ENSP00000261024.3:p.Ala45Val
ENST00000261024.6:c.134C>T	ENSP00000261024.2:p.Ala45Val
ENST00000418714.1:n.575C>T
ENST00000427241.5:c.134C>T	ENSP00000390005.1:p.Ala45Val
ENST00000455320.5:c.134C>T	ENSP00000413549.1:p.Ala45Val
ENST00000479598.5:n.415C>T
NM_014585.5:c.134C>T , LRG_837t1:c.134C>T	NP_055400.1:p.Ala45Val
XM_005246505.1:c.14C>T	XP_005246562.1:p.Ala5Val
XM_005246505.2:c.14C>T	XP_005246562.1:p.Ala5Val
XM_017003938.2:c.14C>T	XP_016859427.1:p.Ala5Val
NM_014585.6:c.134C>T MANE Select	NP_055400.1:p.Ala45Val