Canonical Allele Identifier: CA2024188

Gene: SLC40A1

Linked Data

• dbSNP Id: rs781605467
• ExAC: 2:190430210 T / C
• gnomAD v2: 2-190430210-T-C
• gnomAD v4: 2-189565484-T-C
• MyVariant Identifiers: chr2:g.190430210T>C (hg19) ; chr2:g.189565484T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189565484T>C , CM000664.2:g.189565484T>C	GRCh38
NC_000002.11:g.190430210T>C , CM000664.1:g.190430210T>C	GRCh37
NC_000002.10:g.190138455T>C	NCBI36
NG_009027.1:g.20328A>G , LRG_837:g.20328A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261024.7:c.630A>G MANE Select	ENSP00000261024.3:p.Gly210=
ENST00000261024.6:c.630A>G	ENSP00000261024.2:p.Gly210=
NM_014585.5:c.630A>G , LRG_837t1:c.630A>G	NP_055400.1:p.Gly210=
XM_005246505.1:c.510A>G	XP_005246562.1:p.Gly170=
XM_005246505.2:c.510A>G	XP_005246562.1:p.Gly170=
XM_017003938.2:c.510A>G	XP_016859427.1:p.Gly170=
NM_014585.6:c.630A>G MANE Select	NP_055400.1:p.Gly210=