Canonical Allele Identifier: CA10633248
Community Standard Title: NM_002451.4(MTAP):c.*2539A>G
Gene: MTAP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21864553A>G , CM000671.2:g.21864553A>G GRCh38
NC_000009.11:g.21864552A>G , CM000671.1:g.21864552A>G GRCh37
NC_000009.10:g.21854552A>G NCBI36
NG_032650.1:g.66918A>G
NG_032650.2:g.66918A>G

Transcript Alleles

HGVS Amino-acid Change
NM_002451.4:c.*2539A>G MANE Select NP_002442.2:n.*2539A>G
ENST00000644715.2:c.*2539A>G MANE Select ENSP00000494373.1:n.*2539A>G
NM_001396040.1:c.*2539A>G NP_001382969.1:n.*2539A>G
NM_001396041.1:c.813+5128A>G NP_001382970.1:n.813+5128A>G
NM_001396042.1:c.690+9683A>G NP_001382971.1:n.690+9683A>G
NM_001396043.1:c.813+5128A>G NP_001382972.1:n.813+5128A>G
NM_001396044.1:c.813+5128A>G NP_001382973.1:n.813+5128A>G
NM_001396045.1:c.690+9683A>G NP_001382974.1:n.690+9683A>G
NM_002451.3:c.*2539A>G NP_002442.2:n.*2539A>G
NR_173242.1:n.3521A>G
ENST00000380172.8:c.*2539A>G ENSP00000369519.4:n.*2539A>G
ENST00000404796.2:c.347+46351A>G ENSP00000385916.2:n.347+46351A>G
ENST00000404796.3:c.347+46351A>G ENSP00000385916.2:n.347+46351A>G
ENST00000577563.1:c.147+9683A>G ENSP00000462082.1:n.147+9683A>G
ENST00000580900.5:c.813+5128A>G ENSP00000463424.1:n.813+5128A>G