Canonical Allele Identifier: CA373084935
Gene: MTAP HGNC NCBI

Linked Data

ClinVar Variation Id: 2659127
ClinVar RCV Id: RCV003425638
gnomAD v4: 9-21816747-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21816747A>G , CM000671.2:g.21816747A>G GRCh38
NC_000009.11:g.21816746A>G , CM000671.1:g.21816746A>G GRCh37
NC_000009.10:g.21806746A>G NCBI36
NG_032650.1:g.19112A>G
NG_032650.2:g.19112A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000404796.3:c.154A>G ENSP00000385916.2:p.Asn52Asp
ENST00000644715.2:c.154A>G MANE Select ENSP00000494373.1:p.Asn52Asp
ENST00000380172.8:c.154A>G ENSP00000369519.4:p.Asn52Asp
ENST00000404796.2:c.154A>G ENSP00000385916.2:p.Asn52Asp
ENST00000419385.5:c.*26A>G ENSP00000393507.1:n.*26A>G
ENST00000427788.2:n.540A>G
ENST00000460874.6:c.205A>G ENSP00000461932.1:p.Asn69Asp
ENST00000579422.5:n.542A>G
ENST00000580718.1:c.154A>G ENSP00000464616.1:p.Asn52Asp
ENST00000580900.5:c.154A>G ENSP00000463424.1:p.Asn52Asp
NM_002451.3:c.154A>G NP_002442.2:p.Asn52Asp
NM_002451.4:c.154A>G MANE Select NP_002442.2:p.Asn52Asp
NM_001396040.1:c.205A>G NP_001382969.1:p.Asn69Asp
NM_001396041.1:c.154A>G NP_001382970.1:p.Asn52Asp
NM_001396042.1:c.154A>G NP_001382971.1:p.Asn52Asp
NM_001396043.1:c.154A>G NP_001382972.1:p.Asn52Asp
NM_001396044.1:c.154A>G NP_001382973.1:p.Asn52Asp
NM_001396045.1:c.154A>G NP_001382974.1:p.Asn52Asp
NR_173242.1:n.267A>G