Canonical Allele Identifier: CA1122163244
Gene: MTAP HGNC NCBI

Linked Data

dbSNP Id: rs1825825228
gnomAD v3: 9-21864832-A-T
gnomAD v4: 9-21864832-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21864832A>T , CM000671.2:g.21864832A>T GRCh38
NC_000009.11:g.21864831A>T , CM000671.1:g.21864831A>T GRCh37
NC_000009.10:g.21854831A>T NCBI36
NG_032650.1:g.67197A>T
NG_032650.2:g.67197A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000404796.3:c.347+46630A>T ENSP00000385916.2:n.347+46630A>T
ENST00000644715.2:c.*2818A>T MANE Select ENSP00000494373.1:n.*2818A>T
ENST00000380172.8:c.*2818A>T ENSP00000369519.4:n.*2818A>T
ENST00000404796.2:c.347+46630A>T ENSP00000385916.2:n.347+46630A>T
ENST00000577563.1:c.147+9962A>T ENSP00000462082.1:n.147+9962A>T
ENST00000580900.5:c.813+5407A>T ENSP00000463424.1:n.813+5407A>T
NM_002451.3:c.*2818A>T NP_002442.2:n.*2818A>T
NM_002451.4:c.*2818A>T MANE Select NP_002442.2:n.*2818A>T
NM_001396040.1:c.*2818A>T NP_001382969.1:n.*2818A>T
NM_001396041.1:c.813+5407A>T NP_001382970.1:n.813+5407A>T
NM_001396042.1:c.690+9962A>T NP_001382971.1:n.690+9962A>T
NM_001396043.1:c.813+5407A>T NP_001382972.1:n.813+5407A>T
NM_001396044.1:c.813+5407A>T NP_001382973.1:n.813+5407A>T
NM_001396045.1:c.690+9962A>T NP_001382974.1:n.690+9962A>T
NR_173242.1:n.3800A>T