Canonical Allele Identifier: CA8133976

Gene: COG8

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.69336704A>G , CM000678.2:g.69336704A>G	GRCh38
NC_000016.9:g.69370607A>G , CM000678.1:g.69370607A>G	GRCh37
NC_000016.8:g.67928108A>G	NCBI36
NG_009013.1:g.7920T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_032382.5:c.386T>C MANE Select	NP_115758.3:p.Val129Ala
ENST00000306875.10:c.386T>C MANE Select	ENSP00000305459.6:p.Val129Ala
NM_001374871.1:c.386T>C	NP_001361800.1:p.Val129Ala
NM_001379261.1:c.386T>C	NP_001366190.1:p.Val129Ala
NM_001379262.1:c.386T>C	NP_001366191.1:p.Val129Ala
NM_001379263.1:c.386T>C	NP_001366192.1:p.Val129Ala
NM_001379264.1:c.386T>C	NP_001366193.1:p.Val129Ala
NM_001379265.1:c.386T>C	NP_001366194.1:p.Val129Ala
NM_001379266.1:c.386T>C	NP_001366195.1:p.Val129Ala
NM_032382.4:c.386T>C	NP_115758.3:p.Val129Ala
ENST00000306875.8:c.386T>C	ENSP00000305459.4:p.Val129Ala
ENST00000562081.2:c.386T>C	ENSP00000455954.1:p.Val129Ala
ENST00000562595.5:c.327T>C
ENST00000563634.1:c.11T>C	ENSP00000454500.1:p.Val4Ala
ENST00000564737.1:c.475T>C
ENST00000567493.1:c.-35T>C	ENSP00000464395.1:n.-35T>C
ENST00000570293.5:c.325T>C	ENSP00000464417.1:p.Ter109Arg