Canonical Allele Identifier: CA9821131

Gene: AHCY

Linked Data

• dbSNP Id: rs778463132
• ExAC: 20:32883299 C / T
• gnomAD v2: 20-32883299-C-T
• gnomAD v4: 20-34295493-C-T
• MyVariant Identifiers: chr20:g.32883299C>T (hg19) ; chr20:g.34295493C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.34295493C>T , CM000682.2:g.34295493C>T	GRCh38
NC_000020.10:g.32883299C>T , CM000682.1:g.32883299C>T	GRCh37
NC_000020.9:g.32346960C>T	NCBI36
NG_012630.1:g.21310G>A
NG_012630.2:g.21310G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000217426.7:c.121G>A MANE Select	ENSP00000217426.2:p.Ala41Thr
ENST00000217426.6:c.121G>A	ENSP00000217426.2:p.Ala41Thr
ENST00000468908.1:n.284G>A
ENST00000473516.1:n.424G>A
ENST00000480653.5:n.168G>A
ENST00000538132.1:c.37G>A	ENSP00000442820.1:p.Ala13Thr
ENST00000606061.1:n.208G>A
NM_000687.2:c.121G>A	NP_000678.1:p.Ala41Thr
NM_001161766.1:c.37G>A	NP_001155238.1:p.Ala13Thr
XM_005260316.3:c.37G>A	XP_005260373.1:p.Ala13Thr
XM_005260317.1:c.37G>A	XP_005260374.1:p.Ala13Thr
XM_011528656.1:c.37G>A	XP_011526958.1:p.Ala13Thr
XM_011528657.1:c.37G>A	XP_011526959.1:p.Ala13Thr
XM_011528658.1:c.37G>A	XP_011526960.1:p.Ala13Thr
XM_011528659.1:c.37G>A	XP_011526961.1:p.Ala13Thr
XM_011528660.1:c.37G>A	XP_011526962.1:p.Ala13Thr
NM_000687.3:c.121G>A	NP_000678.1:p.Ala41Thr
NM_001322084.1:c.37G>A	NP_001309013.1:p.Ala13Thr
NM_001322085.1:c.37G>A	NP_001309014.1:p.Ala13Thr
NM_001322086.1:c.127G>A	NP_001309015.1:p.Ala43Thr
NM_001362750.1:c.121G>A	NP_001349679.1:p.Ala41Thr
XM_005260317.2:c.37G>A	XP_005260374.1:p.Ala13Thr
XM_011528656.3:c.127G>A	XP_011526958.2:p.Ala43Thr
XM_011528657.2:c.127G>A	XP_011526959.2:p.Ala43Thr
XM_011528658.3:c.127G>A	XP_011526960.2:p.Ala43Thr
XM_017027709.2:c.121G>A	XP_016883198.1:p.Ala41Thr
XM_017027710.2:c.-304G>A	XP_016883199.1:n.-304G>A
NM_000687.4:c.121G>A MANE Select	NP_000678.1:p.Ala41Thr
NM_001322084.2:c.37G>A	NP_001309013.1:p.Ala13Thr
NM_001322085.2:c.37G>A	NP_001309014.1:p.Ala13Thr
NM_001322086.2:c.127G>A	NP_001309015.1:p.Ala43Thr
NM_001362750.2:c.121G>A	NP_001349679.1:p.Ala41Thr
NM_001161766.2:c.37G>A	NP_001155238.1:p.Ala13Thr