Canonical Allele Identifier: CA10633548
Gene: MTAP HGNC NCBI

Linked Data

ClinVar Variation Id: 366298
ClinVar RCV Id: RCV000306767
dbSNP Id: rs886063792
gnomAD v3: 9-21864620-G-C
gnomAD v4: 9-21864620-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21864620G>C , CM000671.2:g.21864620G>C GRCh38
NC_000009.11:g.21864619G>C , CM000671.1:g.21864619G>C GRCh37
NC_000009.10:g.21854619G>C NCBI36
NG_032650.1:g.66985G>C
NG_032650.2:g.66985G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000404796.3:c.347+46418G>C ENSP00000385916.2:n.347+46418G>C
ENST00000644715.2:c.*2606G>C MANE Select ENSP00000494373.1:n.*2606G>C
ENST00000380172.8:c.*2606G>C ENSP00000369519.4:n.*2606G>C
ENST00000404796.2:c.347+46418G>C ENSP00000385916.2:n.347+46418G>C
ENST00000577563.1:c.147+9750G>C ENSP00000462082.1:n.147+9750G>C
ENST00000580900.5:c.813+5195G>C ENSP00000463424.1:n.813+5195G>C
NM_002451.3:c.*2606G>C NP_002442.2:n.*2606G>C
NM_002451.4:c.*2606G>C MANE Select NP_002442.2:n.*2606G>C
NM_001396040.1:c.*2606G>C NP_001382969.1:n.*2606G>C
NM_001396041.1:c.813+5195G>C NP_001382970.1:n.813+5195G>C
NM_001396042.1:c.690+9750G>C NP_001382971.1:n.690+9750G>C
NM_001396043.1:c.813+5195G>C NP_001382972.1:n.813+5195G>C
NM_001396044.1:c.813+5195G>C NP_001382973.1:n.813+5195G>C
NM_001396045.1:c.690+9750G>C NP_001382974.1:n.690+9750G>C
NR_173242.1:n.3588G>C