Canonical Allele Identifier: CA408658911

Gene: AHCY

Linked Data

• gnomAD v4: 20-34292385-G-A
• MyVariant Identifiers: chr20:g.32880191G>A (hg19) ; chr20:g.34292385G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34292385G>A , CM000682.2:g.34292385G>A	GRCh38
NC_000020.10:g.32880191G>A , CM000682.1:g.32880191G>A	GRCh37
NC_000020.9:g.32343852G>A	NCBI36
NG_012630.1:g.24418C>T
NG_012630.2:g.24418C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000217426.7:c.418C>T MANE Select	ENSP00000217426.2:p.His140Tyr
ENST00000217426.6:c.418C>T	ENSP00000217426.2:p.His140Tyr
ENST00000468908.1:n.581C>T
ENST00000480653.5:n.465C>T
ENST00000538132.1:c.334C>T	ENSP00000442820.1:p.His112Tyr
NM_000687.2:c.418C>T	NP_000678.1:p.His140Tyr
NM_001161766.1:c.334C>T	NP_001155238.1:p.His112Tyr
XM_005260316.3:c.334C>T	XP_005260373.1:p.His112Tyr
XM_005260317.1:c.334C>T	XP_005260374.1:p.His112Tyr
XM_011528656.1:c.334C>T	XP_011526958.1:p.His112Tyr
XM_011528657.1:c.334C>T	XP_011526959.1:p.His112Tyr
XM_011528658.1:c.334C>T	XP_011526960.1:p.His112Tyr
XM_011528659.1:c.334C>T	XP_011526961.1:p.His112Tyr
XM_011528660.1:c.334C>T	XP_011526962.1:p.His112Tyr
NM_000687.3:c.418C>T	NP_000678.1:p.His140Tyr
NM_001322084.1:c.334C>T	NP_001309013.1:p.His112Tyr
NM_001322085.1:c.334C>T	NP_001309014.1:p.His112Tyr
NM_001322086.1:c.424C>T	NP_001309015.1:p.His142Tyr
NM_001362750.1:c.418C>T	NP_001349679.1:p.His140Tyr
XM_005260317.2:c.334C>T	XP_005260374.1:p.His112Tyr
XM_011528656.3:c.424C>T	XP_011526958.2:p.His142Tyr
XM_011528657.2:c.424C>T	XP_011526959.2:p.His142Tyr
XM_011528658.3:c.424C>T	XP_011526960.2:p.His142Tyr
XM_017027709.2:c.418C>T	XP_016883198.1:p.His140Tyr
XM_017027710.2:c.40C>T	XP_016883199.1:p.His14Tyr
NM_000687.4:c.418C>T MANE Select	NP_000678.1:p.His140Tyr
NM_001322084.2:c.334C>T	NP_001309013.1:p.His112Tyr
NM_001322085.2:c.334C>T	NP_001309014.1:p.His112Tyr
NM_001322086.2:c.424C>T	NP_001309015.1:p.His142Tyr
NM_001362750.2:c.418C>T	NP_001349679.1:p.His140Tyr
NM_001161766.2:c.334C>T	NP_001155238.1:p.His112Tyr