Canonical Allele Identifier: CA339234780

Gene: AHDC1

Linked Data

• ClinVar Variation Id: 2876903
• ClinVar RCV Id: RCV003712577
• gnomAD v4: 1-27550873-G-T
• MyVariant Identifiers: chr1:g.27877384G>T (hg19) ; chr1:g.27550873G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.27550873G>T , CM000663.2:g.27550873G>T	GRCh38
NC_000001.10:g.27877384G>T , CM000663.1:g.27877384G>T	GRCh37
NC_000001.9:g.27749971G>T	NCBI36
NG_034158.1:g.57622C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000247087.10:c.1243C>A	ENSP00000247087.4:p.Pro415Thr
ENST00000642245.1:c.1243C>A	ENSP00000495072.1:p.Pro415Thr
ENST00000642416.1:c.1243C>A	ENSP00000494394.1:p.Pro415Thr
ENST00000643308.1:n.2057C>A
ENST00000644989.1:c.1243C>A	ENSP00000495665.1:p.Pro415Thr
ENST00000673934.1:c.1243C>A MANE Select	ENSP00000501218.1:p.Pro415Thr
ENST00000247087.9:c.1243C>A	ENSP00000247087.4:p.Pro415Thr
ENST00000374011.6:c.1243C>A	ENSP00000363123.2:p.Pro415Thr
NM_001029882.3:c.1243C>A	NP_001025053.1:p.Pro415Thr
XM_005245848.2:c.1243C>A	XP_005245905.1:p.Pro415Thr
XM_005245849.2:c.1243C>A	XP_005245906.1:p.Pro415Thr
XM_005245850.2:c.1243C>A	XP_005245907.1:p.Pro415Thr
XM_005245851.2:c.1243C>A	XP_005245908.1:p.Pro415Thr
XM_005245852.2:c.1243C>A	XP_005245909.1:p.Pro415Thr
XM_011541255.1:c.1243C>A	XP_011539557.1:p.Pro415Thr
XM_011541256.1:c.1243C>A	XP_011539558.1:p.Pro415Thr
XM_011541257.1:c.1243C>A	XP_011539559.1:p.Pro415Thr
XR_946609.1:n.2200C>A
XM_005245848.3:c.1243C>A	XP_005245905.1:p.Pro415Thr
XM_005245849.3:c.1243C>A	XP_005245906.1:p.Pro415Thr
XM_005245850.3:c.1243C>A	XP_005245907.1:p.Pro415Thr
XM_005245851.3:c.1243C>A	XP_005245908.1:p.Pro415Thr
XM_005245852.3:c.1243C>A	XP_005245909.1:p.Pro415Thr
XM_011541256.2:c.1243C>A	XP_011539558.1:p.Pro415Thr
XM_011541257.2:c.1243C>A	XP_011539559.1:p.Pro415Thr
XM_024446461.1:c.1243C>A	XP_024302229.1:p.Pro415Thr
XR_946609.2:n.2310C>A
NM_001371928.1:c.1243C>A MANE Select	NP_001358857.1:p.Pro415Thr