Canonical Allele Identifier: CA408660769

Gene: AHCY

Linked Data

• MyVariant Identifiers: chr20:g.32883211A>T (hg19) ; chr20:g.34295405A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34295405A>T , CM000682.2:g.34295405A>T	GRCh38
NC_000020.10:g.32883211A>T , CM000682.1:g.32883211A>T	GRCh37
NC_000020.9:g.32346872A>T	NCBI36
NG_012630.1:g.21398T>A
NG_012630.2:g.21398T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000217426.7:c.209T>A MANE Select	ENSP00000217426.2:p.Leu70Gln
ENST00000217426.6:c.209T>A	ENSP00000217426.2:p.Leu70Gln
ENST00000468908.1:n.372T>A
ENST00000480653.5:n.256T>A
ENST00000538132.1:c.125T>A	ENSP00000442820.1:p.Leu42Gln
ENST00000606061.1:n.296T>A
NM_000687.2:c.209T>A	NP_000678.1:p.Leu70Gln
NM_001161766.1:c.125T>A	NP_001155238.1:p.Leu42Gln
XM_005260316.3:c.125T>A	XP_005260373.1:p.Leu42Gln
XM_005260317.1:c.125T>A	XP_005260374.1:p.Leu42Gln
XM_011528656.1:c.125T>A	XP_011526958.1:p.Leu42Gln
XM_011528657.1:c.125T>A	XP_011526959.1:p.Leu42Gln
XM_011528658.1:c.125T>A	XP_011526960.1:p.Leu42Gln
XM_011528659.1:c.125T>A	XP_011526961.1:p.Leu42Gln
XM_011528660.1:c.125T>A	XP_011526962.1:p.Leu42Gln
NM_000687.3:c.209T>A	NP_000678.1:p.Leu70Gln
NM_001322084.1:c.125T>A	NP_001309013.1:p.Leu42Gln
NM_001322085.1:c.125T>A	NP_001309014.1:p.Leu42Gln
NM_001322086.1:c.215T>A	NP_001309015.1:p.Leu72Gln
NM_001362750.1:c.209T>A	NP_001349679.1:p.Leu70Gln
XM_005260317.2:c.125T>A	XP_005260374.1:p.Leu42Gln
XM_011528656.3:c.215T>A	XP_011526958.2:p.Leu72Gln
XM_011528657.2:c.215T>A	XP_011526959.2:p.Leu72Gln
XM_011528658.3:c.215T>A	XP_011526960.2:p.Leu72Gln
XM_017027709.2:c.209T>A	XP_016883198.1:p.Leu70Gln
XM_017027710.2:c.-216T>A	XP_016883199.1:n.-216T>A
NM_000687.4:c.209T>A MANE Select	NP_000678.1:p.Leu70Gln
NM_001322084.2:c.125T>A	NP_001309013.1:p.Leu42Gln
NM_001322085.2:c.125T>A	NP_001309014.1:p.Leu42Gln
NM_001322086.2:c.215T>A	NP_001309015.1:p.Leu72Gln
NM_001362750.2:c.209T>A	NP_001349679.1:p.Leu70Gln
NM_001161766.2:c.125T>A	NP_001155238.1:p.Leu42Gln