Canonical Allele Identifier: CA395954599

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56385306A>C (hg19) ; chr16:g.56351394A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56351394A>C , CM000678.2:g.56351394A>C	GRCh38
NC_000016.9:g.56385306A>C , CM000678.1:g.56385306A>C	GRCh37
NC_000016.8:g.54942807A>C	NCBI36
NG_042800.1:g.165056A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000262493.12:c.734A>C MANE Select	ENSP00000262493.6:p.His245Pro
ENST00000562316.6:c.401A>C	ENSP00000457238.2:p.His134Pro
ENST00000564727.2:c.38A>C	ENSP00000454971.2:p.His13Pro
ENST00000568375.2:c.116-3472A>C
ENST00000638185.1:n.949A>C
ENST00000638210.1:n.1034A>C
ENST00000638705.1:c.734A>C	ENSP00000491223.1:p.His245Pro
ENST00000638836.1:n.644A>C
ENST00000639055.1:n.1455A>C
ENST00000639251.1:n.635A>C
ENST00000639268.1:c.369A>C
ENST00000639341.1:c.259A>C
ENST00000639770.1:c.772A>C	ENSP00000491999.1:n.772A>C
ENST00000640390.1:n.664A>C
ENST00000640469.1:c.98A>C	ENSP00000491875.1:p.His33Pro
ENST00000640560.1:n.510A>C
ENST00000640893.1:c.*132A>C	ENSP00000492677.1:n.*132A>C
ENST00000262493.10:c.734A>C	ENSP00000262493.6:p.His245Pro
ENST00000568375.1:n.116-3472A>C
NM_020988.2:c.734A>C	NP_066268.1:p.His245Pro
XM_011523003.1:c.608A>C	XP_011521305.1:p.His203Pro
XM_011523003.3:c.608A>C	XP_011521305.1:p.His203Pro
NM_020988.3:c.734A>C MANE Select	NP_066268.1:p.His245Pro