Canonical Allele Identifier: CA2024213

Gene: SLC40A1

Linked Data

• dbSNP Id: rs776202447
• ExAC: 2:190436392 A / G
• gnomAD v2: 2-190436392-A-G
• MyVariant Identifiers: chr2:g.190436392A>G (hg19) ; chr2:g.189571666A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189571666A>G , CM000664.2:g.189571666A>G	GRCh38
NC_000002.11:g.190436392A>G , CM000664.1:g.190436392A>G	GRCh37
NC_000002.10:g.190144637A>G	NCBI36
NG_009027.1:g.14146T>C , LRG_837:g.14146T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.514+49T>C MANE Select	ENSP00000261024.3:n.514+49T>C
ENST00000261024.6:c.514+49T>C	ENSP00000261024.2:n.514+49T>C
ENST00000427241.5:c.514+49T>C	ENSP00000390005.1:n.514+49T>C
NM_014585.5:c.514+49T>C , LRG_837t1:c.514+49T>C	NP_055400.1:n.514+49T>C
XM_005246505.1:c.394+49T>C	XP_005246562.1:n.394+49T>C
XM_005246505.2:c.394+49T>C	XP_005246562.1:n.394+49T>C
XM_017003938.2:c.394+49T>C	XP_016859427.1:n.394+49T>C
NM_014585.6:c.514+49T>C MANE Select	NP_055400.1:n.514+49T>C