Canonical Allele Identifier: CA2024216

Gene: SLC40A1

Linked Data

• dbSNP Id: rs371240034
• ExAC: 2:190436414 T / C
• gnomAD v2: 2-190436414-T-C
• gnomAD v4: 2-189571688-T-C
• MyVariant Identifiers: chr2:g.190436414T>C (hg19) ; chr2:g.189571688T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189571688T>C , CM000664.2:g.189571688T>C	GRCh38
NC_000002.11:g.190436414T>C , CM000664.1:g.190436414T>C	GRCh37
NC_000002.10:g.190144659T>C	NCBI36
NG_009027.1:g.14124A>G , LRG_837:g.14124A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261024.7:c.514+27A>G MANE Select	ENSP00000261024.3:n.514+27A>G
ENST00000261024.6:c.514+27A>G	ENSP00000261024.2:n.514+27A>G
ENST00000427241.5:c.514+27A>G	ENSP00000390005.1:n.514+27A>G
NM_014585.5:c.514+27A>G , LRG_837t1:c.514+27A>G	NP_055400.1:n.514+27A>G
XM_005246505.1:c.394+27A>G	XP_005246562.1:n.394+27A>G
XM_005246505.2:c.394+27A>G	XP_005246562.1:n.394+27A>G
XM_017003938.2:c.394+27A>G	XP_016859427.1:n.394+27A>G
NM_014585.6:c.514+27A>G MANE Select	NP_055400.1:n.514+27A>G