Canonical Allele Identifier: CA408660908
Community Standard Title: NM_000687.4(AHCY):c.139G>A (p.Gly47Ser)
Gene: AHCY HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34295475C>T , CM000682.2:g.34295475C>T GRCh38
NC_000020.10:g.32883281C>T , CM000682.1:g.32883281C>T GRCh37
NC_000020.9:g.32346942C>T NCBI36
NG_012630.1:g.21328G>A
NG_012630.2:g.21328G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000687.4:c.139G>A MANE Select NP_000678.1:p.Gly47Ser
ENST00000217426.7:c.139G>A MANE Select ENSP00000217426.2:p.Gly47Ser
NM_000687.2:c.139G>A NP_000678.1:p.Gly47Ser
NM_000687.3:c.139G>A NP_000678.1:p.Gly47Ser
NM_001161766.1:c.55G>A NP_001155238.1:p.Gly19Ser
NM_001161766.2:c.55G>A NP_001155238.1:p.Gly19Ser
NM_001322084.1:c.55G>A NP_001309013.1:p.Gly19Ser
NM_001322084.2:c.55G>A NP_001309013.1:p.Gly19Ser
NM_001322085.1:c.55G>A NP_001309014.1:p.Gly19Ser
NM_001322085.2:c.55G>A NP_001309014.1:p.Gly19Ser
NM_001322086.1:c.145G>A NP_001309015.1:p.Gly49Ser
NM_001322086.2:c.145G>A NP_001309015.1:p.Gly49Ser
NM_001362750.1:c.139G>A NP_001349679.1:p.Gly47Ser
NM_001362750.2:c.139G>A NP_001349679.1:p.Gly47Ser
ENST00000217426.6:c.139G>A ENSP00000217426.2:p.Gly47Ser
ENST00000468908.1:n.302G>A
ENST00000473516.1:n.442G>A
ENST00000480653.5:n.186G>A
ENST00000538132.1:c.55G>A ENSP00000442820.1:p.Gly19Ser
ENST00000606061.1:n.226G>A
XM_005260316.3:c.55G>A XP_005260373.1:p.Gly19Ser
XM_005260317.1:c.55G>A XP_005260374.1:p.Gly19Ser
XM_005260317.2:c.55G>A XP_005260374.1:p.Gly19Ser
XM_011528656.1:c.55G>A XP_011526958.1:p.Gly19Ser
XM_011528656.3:c.145G>A XP_011526958.2:p.Gly49Ser
XM_011528657.1:c.55G>A XP_011526959.1:p.Gly19Ser
XM_011528657.2:c.145G>A XP_011526959.2:p.Gly49Ser
XM_011528658.1:c.55G>A XP_011526960.1:p.Gly19Ser
XM_011528658.3:c.145G>A XP_011526960.2:p.Gly49Ser
XM_011528659.1:c.55G>A XP_011526961.1:p.Gly19Ser
XM_011528660.1:c.55G>A XP_011526962.1:p.Gly19Ser
XM_017027709.2:c.139G>A XP_016883198.1:p.Gly47Ser
XM_017027710.2:c.-286G>A XP_016883199.1:n.-286G>A