Canonical Allele Identifier: CA19878295

Gene: AHDC1

Linked Data

• ClinVar Variation Id: 1401761
• ClinVar RCV Id: RCV001913100
• dbSNP Id: rs990867212
• gnomAD v2: 1-27877608-A-G
• gnomAD v4: 1-27551097-A-G
• MyVariant Identifiers: chr1:g.27877608A>G (hg19) ; chr1:g.27551097A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.27551097A>G , CM000663.2:g.27551097A>G	GRCh38
NC_000001.10:g.27877608A>G , CM000663.1:g.27877608A>G	GRCh37
NC_000001.9:g.27750195A>G	NCBI36
NG_034158.1:g.57398T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247087.10:c.1019T>C	ENSP00000247087.4:p.Leu340Pro
ENST00000642245.1:c.1019T>C	ENSP00000495072.1:p.Leu340Pro
ENST00000642416.1:c.1019T>C	ENSP00000494394.1:p.Leu340Pro
ENST00000643308.1:n.1833T>C
ENST00000644989.1:c.1019T>C	ENSP00000495665.1:p.Leu340Pro
ENST00000673934.1:c.1019T>C MANE Select	ENSP00000501218.1:p.Leu340Pro
ENST00000247087.9:c.1019T>C	ENSP00000247087.4:p.Leu340Pro
ENST00000374011.6:c.1019T>C	ENSP00000363123.2:p.Leu340Pro
NM_001029882.3:c.1019T>C	NP_001025053.1:p.Leu340Pro
XM_005245848.2:c.1019T>C	XP_005245905.1:p.Leu340Pro
XM_005245849.2:c.1019T>C	XP_005245906.1:p.Leu340Pro
XM_005245850.2:c.1019T>C	XP_005245907.1:p.Leu340Pro
XM_005245851.2:c.1019T>C	XP_005245908.1:p.Leu340Pro
XM_005245852.2:c.1019T>C	XP_005245909.1:p.Leu340Pro
XM_011541255.1:c.1019T>C	XP_011539557.1:p.Leu340Pro
XM_011541256.1:c.1019T>C	XP_011539558.1:p.Leu340Pro
XM_011541257.1:c.1019T>C	XP_011539559.1:p.Leu340Pro
XR_946609.1:n.1976T>C
XM_005245848.3:c.1019T>C	XP_005245905.1:p.Leu340Pro
XM_005245849.3:c.1019T>C	XP_005245906.1:p.Leu340Pro
XM_005245850.3:c.1019T>C	XP_005245907.1:p.Leu340Pro
XM_005245851.3:c.1019T>C	XP_005245908.1:p.Leu340Pro
XM_005245852.3:c.1019T>C	XP_005245909.1:p.Leu340Pro
XM_011541256.2:c.1019T>C	XP_011539558.1:p.Leu340Pro
XM_011541257.2:c.1019T>C	XP_011539559.1:p.Leu340Pro
XM_024446461.1:c.1019T>C	XP_024302229.1:p.Leu340Pro
XR_946609.2:n.2086T>C
NM_001371928.1:c.1019T>C MANE Select	NP_001358857.1:p.Leu340Pro