Canonical Allele Identifier: CA395954654

Gene: GNAO1

Linked Data

• gnomAD v4: 16-56351417-T-C
• MyVariant Identifiers: chr16:g.56385329T>C (hg19) ; chr16:g.56351417T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351417T>C , CM000678.2:g.56351417T>C	GRCh38
NC_000016.9:g.56385329T>C , CM000678.1:g.56385329T>C	GRCh37
NC_000016.8:g.54942830T>C	NCBI36
NG_042800.1:g.165079T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262493.12:c.757T>C MANE Select	ENSP00000262493.6:p.Ser253Pro
ENST00000562316.6:c.424T>C	ENSP00000457238.2:p.Ser142Pro
ENST00000564727.2:c.61T>C	ENSP00000454971.2:p.Ser21Pro
ENST00000568375.2:c.116-3449T>C
ENST00000638185.1:n.972T>C
ENST00000638210.1:n.1057T>C
ENST00000638705.1:c.757T>C	ENSP00000491223.1:p.Ser253Pro
ENST00000638836.1:n.667T>C
ENST00000639055.1:n.1478T>C
ENST00000639251.1:n.658T>C
ENST00000639268.1:c.392T>C
ENST00000639341.1:c.282T>C
ENST00000639770.1:c.795T>C	ENSP00000491999.1:n.795T>C
ENST00000640390.1:n.687T>C
ENST00000640469.1:c.121T>C	ENSP00000491875.1:p.Ser41Pro
ENST00000640560.1:n.533T>C
ENST00000640893.1:c.*155T>C	ENSP00000492677.1:n.*155T>C
ENST00000262493.10:c.757T>C	ENSP00000262493.6:p.Ser253Pro
ENST00000568375.1:n.116-3449T>C
NM_020988.2:c.757T>C	NP_066268.1:p.Ser253Pro
XM_011523003.1:c.631T>C	XP_011521305.1:p.Ser211Pro
XM_011523003.3:c.631T>C	XP_011521305.1:p.Ser211Pro
NM_020988.3:c.757T>C MANE Select	NP_066268.1:p.Ser253Pro