Canonical Allele Identifier: CA495585919

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56388824T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56354912T>C , CM000678.2:g.56354912T>C	GRCh38
NC_000016.9:g.56388824T>C , CM000678.1:g.56388824T>C	GRCh37
NC_000016.8:g.54946325T>C	NCBI36
NG_042800.1:g.168574T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.924T>C MANE Select	ENSP00000262493.6:p.Phe308=
ENST00000562316.6:c.545-1191T>C	ENSP00000457238.2:n.545-1191T>C
ENST00000564727.2:c.228T>C	ENSP00000454971.2:p.Phe76=
ENST00000568375.2:c.162T>C
ENST00000638185.1:n.1139T>C
ENST00000638210.1:n.1224T>C
ENST00000638705.1:c.924T>C	ENSP00000491223.1:p.Phe308=
ENST00000638836.1:n.834T>C
ENST00000639055.1:n.1645T>C
ENST00000639251.1:n.825T>C
ENST00000639268.1:c.559T>C
ENST00000639341.1:c.449T>C
ENST00000639770.1:c.962T>C	ENSP00000491999.1:n.962T>C
ENST00000640390.1:n.854T>C
ENST00000640469.1:c.288T>C	ENSP00000491875.1:p.Phe96=
ENST00000640560.1:n.700T>C
ENST00000640893.1:c.*322T>C	ENSP00000492677.1:n.*322T>C
ENST00000262493.10:c.924T>C	ENSP00000262493.6:p.Phe308=
ENST00000564727.1:c.144T>C	ENSP00000454971.1:p.Phe48=
ENST00000568375.1:n.162T>C
NM_020988.2:c.924T>C	NP_066268.1:p.Phe308=
XM_011523003.1:c.798T>C	XP_011521305.1:p.Phe266=
XM_011523003.3:c.798T>C	XP_011521305.1:p.Phe266=
NM_020988.3:c.924T>C MANE Select	NP_066268.1:p.Phe308=