Canonical Allele Identifier: CA2024283

Gene: SLC40A1

Linked Data

• dbSNP Id: rs764445682
• ExAC: 2:190439969 G / A
• gnomAD v2: 2-190439969-G-A
• gnomAD v4: 2-189575243-G-A
• MyVariant Identifiers: chr2:g.190439969G>A (hg19) ; chr2:g.189575243G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189575243G>A , CM000664.2:g.189575243G>A	GRCh38
NC_000002.11:g.190439969G>A , CM000664.1:g.190439969G>A	GRCh37
NC_000002.10:g.190148214G>A	NCBI36
NG_009027.1:g.10569C>T , LRG_837:g.10569C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.189C>T MANE Select	ENSP00000261024.3:p.Val63=
ENST00000261024.6:c.189C>T	ENSP00000261024.2:p.Val63=
ENST00000418714.1:n.630C>T
ENST00000427241.5:c.189C>T	ENSP00000390005.1:p.Val63=
ENST00000479598.5:n.470C>T
NM_014585.5:c.189C>T , LRG_837t1:c.189C>T	NP_055400.1:p.Val63=
XM_005246505.1:c.69C>T	XP_005246562.1:p.Val23=
XM_005246505.2:c.69C>T	XP_005246562.1:p.Val23=
XM_017003938.2:c.69C>T	XP_016859427.1:p.Val23=
NM_014585.6:c.189C>T MANE Select	NP_055400.1:p.Val63=