Canonical Allele Identifier: CA2633321840

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56351317-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351317T>C , CM000678.2:g.56351317T>C	GRCh38
NC_000016.9:g.56385229T>C , CM000678.1:g.56385229T>C	GRCh37
NC_000016.8:g.54942730T>C	NCBI36
NG_042800.1:g.164979T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.724-67T>C MANE Select	ENSP00000262493.6:n.724-67T>C
ENST00000562316.6:c.391-67T>C	ENSP00000457238.2:n.391-67T>C
ENST00000564727.2:c.28-67T>C	ENSP00000454971.2:n.28-67T>C
ENST00000568375.2:c.116-3549T>C
ENST00000638185.1:n.939-67T>C
ENST00000638210.1:n.1024-67T>C
ENST00000638705.1:c.724-67T>C	ENSP00000491223.1:n.724-67T>C
ENST00000638836.1:n.634-67T>C
ENST00000639055.1:n.1445-67T>C
ENST00000639251.1:n.625-67T>C
ENST00000639268.1:c.359-67T>C
ENST00000639341.1:c.249-67T>C
ENST00000639770.1:c.762-67T>C	ENSP00000491999.1:n.762-67T>C
ENST00000640390.1:n.654-67T>C
ENST00000640469.1:c.88-67T>C	ENSP00000491875.1:n.88-67T>C
ENST00000640560.1:n.500-67T>C
ENST00000640893.1:c.*122-67T>C	ENSP00000492677.1:n.*122-67T>C
ENST00000262493.10:c.724-67T>C	ENSP00000262493.6:n.724-67T>C
ENST00000568375.1:n.116-3549T>C
NM_020988.2:c.724-67T>C	NP_066268.1:n.724-67T>C
XM_011523003.1:c.598-67T>C	XP_011521305.1:n.598-67T>C
XM_011523003.3:c.598-67T>C	XP_011521305.1:n.598-67T>C
NM_020988.3:c.724-67T>C MANE Select	NP_066268.1:n.724-67T>C