Canonical Allele Identifier: CA510273856
Gene: AHCY HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.32881909G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.34294103G>C , CM000682.2:g.34294103G>C GRCh38
NC_000020.10:g.32881909G>C , CM000682.1:g.32881909G>C GRCh37
NC_000020.9:g.32345570G>C NCBI36
NG_012630.1:g.22700C>G
NG_012630.2:g.22700C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000217426.7:c.273C>G MANE Select ENSP00000217426.2:p.Ala91=
ENST00000217426.6:c.273C>G ENSP00000217426.2:p.Ala91=
ENST00000468908.1:n.436C>G
ENST00000480653.5:n.320C>G
ENST00000538132.1:c.189C>G ENSP00000442820.1:p.Ala63=
ENST00000606061.1:n.533C>G
NM_000687.2:c.273C>G NP_000678.1:p.Ala91=
NM_001161766.1:c.189C>G NP_001155238.1:p.Ala63=
XM_005260316.3:c.189C>G XP_005260373.1:p.Ala63=
XM_005260317.1:c.189C>G XP_005260374.1:p.Ala63=
XM_011528656.1:c.189C>G XP_011526958.1:p.Ala63=
XM_011528657.1:c.189C>G XP_011526959.1:p.Ala63=
XM_011528658.1:c.189C>G XP_011526960.1:p.Ala63=
XM_011528659.1:c.189C>G XP_011526961.1:p.Ala63=
XM_011528660.1:c.189C>G XP_011526962.1:p.Ala63=
NM_000687.3:c.273C>G NP_000678.1:p.Ala91=
NM_001322084.1:c.189C>G NP_001309013.1:p.Ala63=
NM_001322085.1:c.189C>G NP_001309014.1:p.Ala63=
NM_001322086.1:c.279C>G NP_001309015.1:p.Ala93=
NM_001362750.1:c.273C>G NP_001349679.1:p.Ala91=
XM_005260317.2:c.189C>G XP_005260374.1:p.Ala63=
XM_011528656.3:c.279C>G XP_011526958.2:p.Ala93=
XM_011528657.2:c.279C>G XP_011526959.2:p.Ala93=
XM_011528658.3:c.279C>G XP_011526960.2:p.Ala93=
XM_017027709.2:c.273C>G XP_016883198.1:p.Ala91=
XM_017027710.2:c.-152C>G XP_016883199.1:n.-152C>G
NM_000687.4:c.273C>G MANE Select NP_000678.1:p.Ala91=
NM_001322084.2:c.189C>G NP_001309013.1:p.Ala63=
NM_001322085.2:c.189C>G NP_001309014.1:p.Ala63=
NM_001322086.2:c.279C>G NP_001309015.1:p.Ala93=
NM_001362750.2:c.273C>G NP_001349679.1:p.Ala91=
NM_001161766.2:c.189C>G NP_001155238.1:p.Ala63=