Canonical Allele Identifier: CA510273787

Gene: AHCY

Linked Data

• MyVariant Identifiers: chr20:g.32880204G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34292398G>T , CM000682.2:g.34292398G>T	GRCh38
NC_000020.10:g.32880204G>T , CM000682.1:g.32880204G>T	GRCh37
NC_000020.9:g.32343865G>T	NCBI36
NG_012630.1:g.24405C>A
NG_012630.2:g.24405C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217426.7:c.405C>A MANE Select	ENSP00000217426.2:p.Leu135=
ENST00000217426.6:c.405C>A	ENSP00000217426.2:p.Leu135=
ENST00000468908.1:n.568C>A
ENST00000480653.5:n.452C>A
ENST00000538132.1:c.321C>A	ENSP00000442820.1:p.Leu107=
NM_000687.2:c.405C>A	NP_000678.1:p.Leu135=
NM_001161766.1:c.321C>A	NP_001155238.1:p.Leu107=
XM_005260316.3:c.321C>A	XP_005260373.1:p.Leu107=
XM_005260317.1:c.321C>A	XP_005260374.1:p.Leu107=
XM_011528656.1:c.321C>A	XP_011526958.1:p.Leu107=
XM_011528657.1:c.321C>A	XP_011526959.1:p.Leu107=
XM_011528658.1:c.321C>A	XP_011526960.1:p.Leu107=
XM_011528659.1:c.321C>A	XP_011526961.1:p.Leu107=
XM_011528660.1:c.321C>A	XP_011526962.1:p.Leu107=
NM_000687.3:c.405C>A	NP_000678.1:p.Leu135=
NM_001322084.1:c.321C>A	NP_001309013.1:p.Leu107=
NM_001322085.1:c.321C>A	NP_001309014.1:p.Leu107=
NM_001322086.1:c.411C>A	NP_001309015.1:p.Leu137=
NM_001362750.1:c.405C>A	NP_001349679.1:p.Leu135=
XM_005260317.2:c.321C>A	XP_005260374.1:p.Leu107=
XM_011528656.3:c.411C>A	XP_011526958.2:p.Leu137=
XM_011528657.2:c.411C>A	XP_011526959.2:p.Leu137=
XM_011528658.3:c.411C>A	XP_011526960.2:p.Leu137=
XM_017027709.2:c.405C>A	XP_016883198.1:p.Leu135=
XM_017027710.2:c.27C>A	XP_016883199.1:p.Leu9=
NM_000687.4:c.405C>A MANE Select	NP_000678.1:p.Leu135=
NM_001322084.2:c.321C>A	NP_001309013.1:p.Leu107=
NM_001322085.2:c.321C>A	NP_001309014.1:p.Leu107=
NM_001322086.2:c.411C>A	NP_001309015.1:p.Leu137=
NM_001362750.2:c.405C>A	NP_001349679.1:p.Leu135=
NM_001161766.2:c.321C>A	NP_001155238.1:p.Leu107=