Canonical Allele Identifier: CA2213320713

Gene: COG7

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23417117T= , CM000678.2:g.23417117T=	GRCh38
NC_000016.9:g.23428438T= , CM000678.1:g.23428438T=	GRCh37
NC_000016.8:g.23335939T=	NCBI36
NG_021287.1:g.41075A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000307149.10:c.1142A= MANE Select	ENSP00000305442.5:p.His381=
ENST00000307149.9:c.1142A=	ENSP00000305442.5:p.His381=
ENST00000567821.1:n.177A=
NM_153603.3:c.1142A=	NP_705831.1:p.His381=
XR_429680.1:n.1358A=
XM_017023870.1:c.947A=	XP_016879359.1:p.His316=
XR_002957852.1:n.1363A=
XR_429680.2:n.1363A=
NM_153603.4:c.1142A= MANE Select	NP_705831.1:p.His381=