Canonical Allele Identifier: CA62903693

Gene: SLC40A1

Linked Data

• dbSNP Id: rs778378861
• gnomAD v2: 2-190436370-C-A
• gnomAD v3: 2-189571644-C-A
• gnomAD v4: 2-189571644-C-A
• MyVariant Identifiers: chr2:g.190436370C>A (hg19) ; chr2:g.189571644C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189571644C>A , CM000664.2:g.189571644C>A	GRCh38
NC_000002.11:g.190436370C>A , CM000664.1:g.190436370C>A	GRCh37
NC_000002.10:g.190144615C>A	NCBI36
NG_009027.1:g.14168G>T , LRG_837:g.14168G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261024.7:c.514+71G>T MANE Select	ENSP00000261024.3:n.514+71G>T
ENST00000261024.6:c.514+71G>T	ENSP00000261024.2:n.514+71G>T
ENST00000427241.5:c.514+71G>T	ENSP00000390005.1:n.514+71G>T
NM_014585.5:c.514+71G>T , LRG_837t1:c.514+71G>T	NP_055400.1:n.514+71G>T
XM_005246505.1:c.394+71G>T	XP_005246562.1:n.394+71G>T
XM_005246505.2:c.394+71G>T	XP_005246562.1:n.394+71G>T
XM_017003938.2:c.394+71G>T	XP_016859427.1:n.394+71G>T
NM_014585.6:c.514+71G>T MANE Select	NP_055400.1:n.514+71G>T