Canonical Allele Identifier: CA373084943
Gene: MTAP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.21816750G>C , CM000671.2:g.21816750G>C GRCh38
NC_000009.11:g.21816749G>C , CM000671.1:g.21816749G>C GRCh37
NC_000009.10:g.21806749G>C NCBI36
NG_032650.1:g.19115G>C
NG_032650.2:g.19115G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000404796.3:c.157G>C ENSP00000385916.2:p.Val53Leu
ENST00000644715.2:c.157G>C MANE Select ENSP00000494373.1:p.Val53Leu
ENST00000380172.8:c.157G>C ENSP00000369519.4:p.Val53Leu
ENST00000404796.2:c.157G>C ENSP00000385916.2:p.Val53Leu
ENST00000419385.5:c.*29G>C ENSP00000393507.1:n.*29G>C
ENST00000427788.2:n.543G>C
ENST00000460874.6:c.208G>C ENSP00000461932.1:p.Val70Leu
ENST00000579422.5:n.545G>C
ENST00000580718.1:c.157G>C ENSP00000464616.1:p.Val53Leu
ENST00000580900.5:c.157G>C ENSP00000463424.1:p.Val53Leu
NM_002451.3:c.157G>C NP_002442.2:p.Val53Leu
NM_002451.4:c.157G>C MANE Select NP_002442.2:p.Val53Leu
NM_001396040.1:c.208G>C NP_001382969.1:p.Val70Leu
NM_001396041.1:c.157G>C NP_001382970.1:p.Val53Leu
NM_001396042.1:c.157G>C NP_001382971.1:p.Val53Leu
NM_001396043.1:c.157G>C NP_001382972.1:p.Val53Leu
NM_001396044.1:c.157G>C NP_001382973.1:p.Val53Leu
NM_001396045.1:c.157G>C NP_001382974.1:p.Val53Leu
NR_173242.1:n.270G>C