Canonical Allele Identifier: CA395952236

Gene: GNAO1

Linked Data

• MyVariant Identifiers: chr16:g.56370689C>A (hg19) ; chr16:g.56336777C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.56336777C>A , CM000678.2:g.56336777C>A	GRCh38
NC_000016.9:g.56370689C>A , CM000678.1:g.56370689C>A	GRCh37
NC_000016.8:g.54928190C>A	NCBI36
NG_042800.1:g.150439C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262494.13:c.640C>A	ENSP00000262494.7:p.His214Asn
ENST00000262493.12:c.640C>A MANE Select	ENSP00000262493.6:p.His214Asn
ENST00000262494.12:c.640C>A	ENSP00000262494.7:p.His214Asn
ENST00000562316.6:c.307C>A	ENSP00000457238.2:p.His103Asn
ENST00000568375.2:c.32C>A
ENST00000638185.1:n.855C>A
ENST00000638210.1:n.940C>A
ENST00000638705.1:c.640C>A	ENSP00000491223.1:p.His214Asn
ENST00000638836.1:n.550C>A
ENST00000639055.1:n.1361C>A
ENST00000639251.1:n.541C>A
ENST00000639268.1:c.275C>A
ENST00000639341.1:c.165C>A
ENST00000639770.1:c.678C>A	ENSP00000491999.1:n.678C>A
ENST00000640390.1:n.570C>A
ENST00000640469.1:c.4C>A	ENSP00000491875.1:p.His2Asn
ENST00000640560.1:n.416C>A
ENST00000640893.1:c.*38C>A	ENSP00000492677.1:n.*38C>A
ENST00000262493.10:c.640C>A	ENSP00000262493.6:p.His214Asn
ENST00000262494.11:c.640C>A	ENSP00000262494.7:p.His214Asn
ENST00000568375.1:n.32C>A
NM_020988.2:c.640C>A	NP_066268.1:p.His214Asn
NM_138736.2:c.640C>A	NP_620073.2:p.His214Asn
XM_011523003.1:c.514C>A	XP_011521305.1:p.His172Asn
XM_011523003.3:c.514C>A	XP_011521305.1:p.His172Asn
NM_020988.3:c.640C>A MANE Select	NP_066268.1:p.His214Asn
NM_138736.3:c.640C>A	NP_620073.2:p.His214Asn