Canonical Allele Identifier: CA148592712

Gene: PDE7B

Linked Data

• dbSNP Id: rs9321547
• gnomAD v2: 6-136307525-A-G
• gnomAD v3: 6-135986387-A-G
• gnomAD v4: 6-135986387-A-G
• MyVariant Identifiers: chr6:g.136307525A>G (hg19) ; chr6:g.135986387A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.135986387A>G , CM000668.2:g.135986387A>G	GRCh38
NC_000006.11:g.136307525A>G , CM000668.1:g.136307525A>G	GRCh37
NC_000006.10:g.136349218A>G	NCBI36
NG_011994.1:g.139692A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000308191.11:c.82+38863A>G MANE Select	ENSP00000310661.6:n.82+38863A>G
ENST00000308191.10:c.82+38863A>G	ENSP00000310661.6:n.82+38863A>G
NM_018945.3:c.82+38863A>G	NP_061818.1:n.82+38863A>G
XM_011535755.1:c.199+38863A>G	XP_011534057.1:n.199+38863A>G
NM_018945.4:c.82+38863A>G MANE Select	NP_061818.1:n.82+38863A>G