Canonical Allele Identifier: CA2689593183
Gene: MTAP HGNC NCBI

Linked Data

gnomAD v4: 9-21864829-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21864829A>T , CM000671.2:g.21864829A>T GRCh38
NC_000009.11:g.21864828A>T , CM000671.1:g.21864828A>T GRCh37
NC_000009.10:g.21854828A>T NCBI36
NG_032650.1:g.67194A>T
NG_032650.2:g.67194A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000404796.3:c.347+46627A>T ENSP00000385916.2:n.347+46627A>T
ENST00000644715.2:c.*2815A>T MANE Select ENSP00000494373.1:n.*2815A>T
ENST00000380172.8:c.*2815A>T ENSP00000369519.4:n.*2815A>T
ENST00000404796.2:c.347+46627A>T ENSP00000385916.2:n.347+46627A>T
ENST00000577563.1:c.147+9959A>T ENSP00000462082.1:n.147+9959A>T
ENST00000580900.5:c.813+5404A>T ENSP00000463424.1:n.813+5404A>T
NM_002451.3:c.*2815A>T NP_002442.2:n.*2815A>T
NM_002451.4:c.*2815A>T MANE Select NP_002442.2:n.*2815A>T
NM_001396040.1:c.*2815A>T NP_001382969.1:n.*2815A>T
NM_001396041.1:c.813+5404A>T NP_001382970.1:n.813+5404A>T
NM_001396042.1:c.690+9959A>T NP_001382971.1:n.690+9959A>T
NM_001396043.1:c.813+5404A>T NP_001382972.1:n.813+5404A>T
NM_001396044.1:c.813+5404A>T NP_001382973.1:n.813+5404A>T
NM_001396045.1:c.690+9959A>T NP_001382974.1:n.690+9959A>T
NR_173242.1:n.3797A>T