Canonical Allele Identifier: CA6050833

Gene: GANAB

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62630788C>T , CM000673.2:g.62630788C>T	GRCh38
NC_000011.9:g.62398260C>T , CM000673.1:g.62398260C>T	GRCh37
NC_000011.8:g.62154836C>T	NCBI36
NG_053018.1:g.20939G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356638.8:c.1199G>A MANE Select	ENSP00000349053.3:p.Arg400His
ENST00000648273.1:c.908G>A	ENSP00000497655.1:p.Arg303His
ENST00000346178.8:c.1265G>A	ENSP00000340466.4:p.Arg422His
ENST00000356638.7:c.1199G>A	ENSP00000349053.3:p.Arg400His
ENST00000532402.5:c.*931G>A	ENSP00000432181.1:n.*931G>A
ENST00000534779.5:c.923G>A	ENSP00000435306.1:p.Arg308His
ENST00000540933.5:c.908G>A	ENSP00000442962.1:p.Arg303His
NM_001278192.1:c.923G>A	NP_001265121.1:p.Arg308His
NM_001278193.1:c.857G>A	NP_001265122.1:p.Arg286His
NM_001278194.1:c.908G>A	NP_001265123.1:p.Arg303His
NM_198334.2:c.1199G>A	NP_938148.1:p.Arg400His
NM_198335.3:c.1265G>A	NP_938149.2:p.Arg422His
NM_001329222.1:c.908G>A	NP_001316151.1:p.Arg303His
NM_001329223.1:c.908G>A	NP_001316152.1:p.Arg303His
NM_001329224.1:c.476G>A	NP_001316153.1:p.Arg159His
NM_001329225.1:c.476G>A	NP_001316154.1:p.Arg159His
XM_017017412.1:c.908G>A	XP_016872901.1:p.Arg303His
NM_198334.3:c.1199G>A MANE Select	NP_938148.1:p.Arg400His
NM_001278192.2:c.923G>A	NP_001265121.1:p.Arg308His
NM_001278193.2:c.857G>A	NP_001265122.1:p.Arg286His
NM_001329223.2:c.908G>A	NP_001316152.1:p.Arg303His
NM_001329225.2:c.476G>A	NP_001316154.1:p.Arg159His
NM_198335.4:c.1265G>A	NP_938149.2:p.Arg422His
NM_001278194.2:c.908G>A	NP_001265123.1:p.Arg303His
NM_001329222.2:c.908G>A	NP_001316151.1:p.Arg303His
NM_001329224.2:c.476G>A	NP_001316153.1:p.Arg159His