Canonical Allele Identifier: CA2689593197
Gene: MTAP HGNC NCBI

Linked Data

dbSNP Id: rs2118603944
gnomAD v4: 9-21864843-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21864843G>A , CM000671.2:g.21864843G>A GRCh38
NC_000009.11:g.21864842G>A , CM000671.1:g.21864842G>A GRCh37
NC_000009.10:g.21854842G>A NCBI36
NG_032650.1:g.67208G>A
NG_032650.2:g.67208G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000404796.3:c.347+46641G>A ENSP00000385916.2:n.347+46641G>A
ENST00000644715.2:c.*2829G>A MANE Select ENSP00000494373.1:n.*2829G>A
ENST00000380172.8:c.*2829G>A ENSP00000369519.4:n.*2829G>A
ENST00000404796.2:c.347+46641G>A ENSP00000385916.2:n.347+46641G>A
ENST00000577563.1:c.147+9973G>A ENSP00000462082.1:n.147+9973G>A
ENST00000580900.5:c.813+5418G>A ENSP00000463424.1:n.813+5418G>A
NM_002451.3:c.*2829G>A NP_002442.2:n.*2829G>A
NM_002451.4:c.*2829G>A MANE Select NP_002442.2:n.*2829G>A
NM_001396040.1:c.*2829G>A NP_001382969.1:n.*2829G>A
NM_001396041.1:c.813+5418G>A NP_001382970.1:n.813+5418G>A
NM_001396042.1:c.690+9973G>A NP_001382971.1:n.690+9973G>A
NM_001396043.1:c.813+5418G>A NP_001382972.1:n.813+5418G>A
NM_001396044.1:c.813+5418G>A NP_001382973.1:n.813+5418G>A
NM_001396045.1:c.690+9973G>A NP_001382974.1:n.690+9973G>A
NR_173242.1:n.3811G>A