Canonical Allele Identifier: CA538917977

Gene: SLC40A1

Linked Data

• dbSNP Id: rs1383071861
• gnomAD v2: 2-190430075-T-A
• gnomAD v4: 2-189565349-T-A
• MyVariant Identifiers: chr2:g.190430075T>A (hg19) ; chr2:g.189565349T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189565349T>A , CM000664.2:g.189565349T>A	GRCh38
NC_000002.11:g.190430075T>A , CM000664.1:g.190430075T>A	GRCh37
NC_000002.10:g.190138320T>A	NCBI36
NG_009027.1:g.20463A>T , LRG_837:g.20463A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.760+5A>T MANE Select	ENSP00000261024.3:n.760+5A>T
ENST00000261024.6:c.760+5A>T	ENSP00000261024.2:n.760+5A>T
NM_014585.5:c.760+5A>T , LRG_837t1:c.760+5A>T	NP_055400.1:n.760+5A>T
XM_005246505.1:c.640+5A>T	XP_005246562.1:n.640+5A>T
XM_005246505.2:c.640+5A>T	XP_005246562.1:n.640+5A>T
XM_017003938.2:c.640+5A>T	XP_016859427.1:n.640+5A>T
NM_014585.6:c.760+5A>T MANE Select	NP_055400.1:n.760+5A>T