Canonical Allele Identifier: CA1040450866
Gene: SLC40A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2901066
ClinVar RCV Id: RCV003615285
dbSNP Id: rs2031131505
gnomAD v3: 2-189571699-G-A
gnomAD v4: 2-189571699-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189571699G>A , CM000664.2:g.189571699G>A GRCh38
NC_000002.11:g.190436425G>A , CM000664.1:g.190436425G>A GRCh37
NC_000002.10:g.190144670G>A NCBI36
NG_009027.1:g.14113C>T , LRG_837:g.14113C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000261024.7:c.514+16C>T MANE Select ENSP00000261024.3:n.514+16C>T
ENST00000261024.6:c.514+16C>T ENSP00000261024.2:n.514+16C>T
ENST00000427241.5:c.514+16C>T ENSP00000390005.1:n.514+16C>T
NM_014585.5:c.514+16C>T , LRG_837t1:c.514+16C>T NP_055400.1:n.514+16C>T
XM_005246505.1:c.394+16C>T XP_005246562.1:n.394+16C>T
XM_005246505.2:c.394+16C>T XP_005246562.1:n.394+16C>T
XM_017003938.2:c.394+16C>T XP_016859427.1:n.394+16C>T
NM_014585.6:c.514+16C>T MANE Select NP_055400.1:n.514+16C>T
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