Canonical Allele Identifier: CA408660776

Gene: AHCY

Linked Data

• gnomAD v4: 20-34295409-T-C
• MyVariant Identifiers: chr20:g.32883215T>C (hg19) ; chr20:g.34295409T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34295409T>C , CM000682.2:g.34295409T>C	GRCh38
NC_000020.10:g.32883215T>C , CM000682.1:g.32883215T>C	GRCh37
NC_000020.9:g.32346876T>C	NCBI36
NG_012630.1:g.21394A>G
NG_012630.2:g.21394A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000217426.7:c.205A>G MANE Select	ENSP00000217426.2:p.Thr69Ala
ENST00000217426.6:c.205A>G	ENSP00000217426.2:p.Thr69Ala
ENST00000468908.1:n.368A>G
ENST00000480653.5:n.252A>G
ENST00000538132.1:c.121A>G	ENSP00000442820.1:p.Thr41Ala
ENST00000606061.1:n.292A>G
NM_000687.2:c.205A>G	NP_000678.1:p.Thr69Ala
NM_001161766.1:c.121A>G	NP_001155238.1:p.Thr41Ala
XM_005260316.3:c.121A>G	XP_005260373.1:p.Thr41Ala
XM_005260317.1:c.121A>G	XP_005260374.1:p.Thr41Ala
XM_011528656.1:c.121A>G	XP_011526958.1:p.Thr41Ala
XM_011528657.1:c.121A>G	XP_011526959.1:p.Thr41Ala
XM_011528658.1:c.121A>G	XP_011526960.1:p.Thr41Ala
XM_011528659.1:c.121A>G	XP_011526961.1:p.Thr41Ala
XM_011528660.1:c.121A>G	XP_011526962.1:p.Thr41Ala
NM_000687.3:c.205A>G	NP_000678.1:p.Thr69Ala
NM_001322084.1:c.121A>G	NP_001309013.1:p.Thr41Ala
NM_001322085.1:c.121A>G	NP_001309014.1:p.Thr41Ala
NM_001322086.1:c.211A>G	NP_001309015.1:p.Thr71Ala
NM_001362750.1:c.205A>G	NP_001349679.1:p.Thr69Ala
XM_005260317.2:c.121A>G	XP_005260374.1:p.Thr41Ala
XM_011528656.3:c.211A>G	XP_011526958.2:p.Thr71Ala
XM_011528657.2:c.211A>G	XP_011526959.2:p.Thr71Ala
XM_011528658.3:c.211A>G	XP_011526960.2:p.Thr71Ala
XM_017027709.2:c.205A>G	XP_016883198.1:p.Thr69Ala
XM_017027710.2:c.-220A>G	XP_016883199.1:n.-220A>G
NM_000687.4:c.205A>G MANE Select	NP_000678.1:p.Thr69Ala
NM_001322084.2:c.121A>G	NP_001309013.1:p.Thr41Ala
NM_001322085.2:c.121A>G	NP_001309014.1:p.Thr41Ala
NM_001322086.2:c.211A>G	NP_001309015.1:p.Thr71Ala
NM_001362750.2:c.205A>G	NP_001349679.1:p.Thr69Ala
NM_001161766.2:c.121A>G	NP_001155238.1:p.Thr41Ala