Canonical Allele Identifier: CA961904

Gene: ALG14

Linked Data

• ClinVar Variation Id: 542125
• ClinVar RCV Id: RCV000652504
• dbSNP Id: rs11165298
• ExAC: 1:95538415 C / T
• gnomAD v2: 1-95538415-C-T
• gnomAD v3: 1-95072859-C-T
• gnomAD v4: 1-95072859-C-T
• MyVariant Identifiers: chr1:g.95538415C>T (hg19) ; chr1:g.95072859C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.95072859C>T , CM000663.2:g.95072859C>T	GRCh38
NC_000001.10:g.95538415C>T , CM000663.1:g.95538415C>T	GRCh37
NC_000001.9:g.95311003C>T	NCBI36
NG_042044.1:g.5093G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370205.6:c.40G>A MANE Select	ENSP00000359224.4:p.Val14Met
ENST00000370205.5:c.40G>A	ENSP00000359224.4:p.Val14Met
ENST00000495856.1:n.16G>A
NM_001305242.1:c.40G>A	NP_001292171.1:p.Val14Met
NM_144988.3:c.40G>A	NP_659425.1:p.Val14Met
NR_131032.1:n.93G>A
XM_005270582.2:c.40G>A	XP_005270639.1:p.Val14Met
XM_011540897.1:c.40G>A	XP_011539199.1:p.Val14Met
XR_946568.1:n.105G>A
XM_005270582.4:c.40G>A	XP_005270639.1:p.Val14Met
XM_011540897.2:c.40G>A	XP_011539199.1:p.Val14Met
XR_001737024.1:n.116G>A
XR_001737025.1:n.116G>A
XR_946568.3:n.115G>A
NM_144988.4:c.40G>A MANE Select	NP_659425.1:p.Val14Met
NM_001305242.2:c.40G>A	NP_001292171.1:p.Val14Met
NR_131032.2:n.93G>A