Canonical Allele Identifier: CA5011759

Gene: MTAP

Linked Data

• ClinVar Variation Id: 366239
• ClinVar RCV Id: RCV000309806
• dbSNP Id: rs369294437
• ExAC: 9:21816783 T / A
• gnomAD v2: 9-21816783-T-A
• gnomAD v3: 9-21816784-T-A
• gnomAD v4: 9-21816784-T-A
• MyVariant Identifiers: chr9:g.21816783T>A (hg19) ; chr9:g.21816784T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.21816784T>A , CM000671.2:g.21816784T>A	GRCh38
NC_000009.11:g.21816783T>A , CM000671.1:g.21816783T>A	GRCh37
NC_000009.10:g.21806783T>A	NCBI36
NG_032650.1:g.19149T>A
NG_032650.2:g.19149T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000404796.3:c.179+12T>A	ENSP00000385916.2:n.179+12T>A
ENST00000644715.2:c.179+12T>A MANE Select	ENSP00000494373.1:n.179+12T>A
ENST00000380172.8:c.179+12T>A	ENSP00000369519.4:n.179+12T>A
ENST00000404796.2:c.179+12T>A	ENSP00000385916.2:n.179+12T>A
ENST00000419385.5:c.*51+12T>A	ENSP00000393507.1:n.*51+12T>A
ENST00000427788.2:n.565+12T>A
ENST00000460874.6:c.230+12T>A	ENSP00000461932.1:n.230+12T>A
ENST00000579422.5:n.567+12T>A
ENST00000580718.1:c.179+12T>A	ENSP00000464616.1:n.179+12T>A
ENST00000580900.5:c.179+12T>A	ENSP00000463424.1:n.179+12T>A
NM_002451.3:c.179+12T>A	NP_002442.2:n.179+12T>A
NM_002451.4:c.179+12T>A MANE Select	NP_002442.2:n.179+12T>A
NM_001396040.1:c.230+12T>A	NP_001382969.1:n.230+12T>A
NM_001396041.1:c.179+12T>A	NP_001382970.1:n.179+12T>A
NM_001396042.1:c.179+12T>A	NP_001382971.1:n.179+12T>A
NM_001396043.1:c.179+12T>A	NP_001382972.1:n.179+12T>A
NM_001396044.1:c.179+12T>A	NP_001382973.1:n.179+12T>A
NM_001396045.1:c.179+12T>A	NP_001382974.1:n.179+12T>A
NR_173242.1:n.292+12T>A