Canonical Allele Identifier: CA716052

Gene: AHDC1

Linked Data

• ClinVar Variation Id: 1942900
• ClinVar RCV Id: RCV002647032
• dbSNP Id: rs771823895
• ExAC: 1:27877674 T / C
• gnomAD v2: 1-27877674-T-C
• gnomAD v3: 1-27551163-T-C
• gnomAD v4: 1-27551163-T-C
• MyVariant Identifiers: chr1:g.27877674T>C (hg19) ; chr1:g.27551163T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.27551163T>C , CM000663.2:g.27551163T>C	GRCh38
NC_000001.10:g.27877674T>C , CM000663.1:g.27877674T>C	GRCh37
NC_000001.9:g.27750261T>C	NCBI36
NG_034158.1:g.57332A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247087.10:c.953A>G	ENSP00000247087.4:p.Asp318Gly
ENST00000642245.1:c.953A>G	ENSP00000495072.1:p.Asp318Gly
ENST00000642416.1:c.953A>G	ENSP00000494394.1:p.Asp318Gly
ENST00000643308.1:n.1767A>G
ENST00000644989.1:c.953A>G	ENSP00000495665.1:p.Asp318Gly
ENST00000673934.1:c.953A>G MANE Select	ENSP00000501218.1:p.Asp318Gly
ENST00000247087.9:c.953A>G	ENSP00000247087.4:p.Asp318Gly
ENST00000374011.6:c.953A>G	ENSP00000363123.2:p.Asp318Gly
NM_001029882.3:c.953A>G	NP_001025053.1:p.Asp318Gly
XM_005245848.2:c.953A>G	XP_005245905.1:p.Asp318Gly
XM_005245849.2:c.953A>G	XP_005245906.1:p.Asp318Gly
XM_005245850.2:c.953A>G	XP_005245907.1:p.Asp318Gly
XM_005245851.2:c.953A>G	XP_005245908.1:p.Asp318Gly
XM_005245852.2:c.953A>G	XP_005245909.1:p.Asp318Gly
XM_011541255.1:c.953A>G	XP_011539557.1:p.Asp318Gly
XM_011541256.1:c.953A>G	XP_011539558.1:p.Asp318Gly
XM_011541257.1:c.953A>G	XP_011539559.1:p.Asp318Gly
XR_946609.1:n.1910A>G
XM_005245848.3:c.953A>G	XP_005245905.1:p.Asp318Gly
XM_005245849.3:c.953A>G	XP_005245906.1:p.Asp318Gly
XM_005245850.3:c.953A>G	XP_005245907.1:p.Asp318Gly
XM_005245851.3:c.953A>G	XP_005245908.1:p.Asp318Gly
XM_005245852.3:c.953A>G	XP_005245909.1:p.Asp318Gly
XM_011541256.2:c.953A>G	XP_011539558.1:p.Asp318Gly
XM_011541257.2:c.953A>G	XP_011539559.1:p.Asp318Gly
XM_024446461.1:c.953A>G	XP_024302229.1:p.Asp318Gly
XR_946609.2:n.2020A>G
NM_001371928.1:c.953A>G MANE Select	NP_001358857.1:p.Asp318Gly