Canonical Allele Identifier: CA6050569

Gene: GANAB

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62628776C>T , CM000673.2:g.62628776C>T	GRCh38
NC_000011.9:g.62396248C>T , CM000673.1:g.62396248C>T	GRCh37
NC_000011.8:g.62152824C>T	NCBI36
NG_053018.1:g.22951G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356638.8:c.2173G>A MANE Select	ENSP00000349053.3:p.Val725Ile
ENST00000648273.1:c.1882G>A	ENSP00000497655.1:p.Val628Ile
ENST00000346178.8:c.2239G>A	ENSP00000340466.4:p.Val747Ile
ENST00000356638.7:c.2173G>A	ENSP00000349053.3:p.Val725Ile
ENST00000532402.5:c.*1905G>A	ENSP00000432181.1:n.*1905G>A
ENST00000534779.5:c.1897G>A	ENSP00000435306.1:p.Val633Ile
ENST00000540933.5:c.1882G>A	ENSP00000442962.1:p.Val628Ile
NM_001278192.1:c.1897G>A	NP_001265121.1:p.Val633Ile
NM_001278193.1:c.1831G>A	NP_001265122.1:p.Val611Ile
NM_001278194.1:c.1882G>A	NP_001265123.1:p.Val628Ile
NM_198334.2:c.2173G>A	NP_938148.1:p.Val725Ile
NM_198335.3:c.2239G>A	NP_938149.2:p.Val747Ile
NM_001329222.1:c.1882G>A	NP_001316151.1:p.Val628Ile
NM_001329223.1:c.1882G>A	NP_001316152.1:p.Val628Ile
NM_001329224.1:c.1450G>A	NP_001316153.1:p.Val484Ile
NM_001329225.1:c.1450G>A	NP_001316154.1:p.Val484Ile
XM_017017412.1:c.1882G>A	XP_016872901.1:p.Val628Ile
NM_198334.3:c.2173G>A MANE Select	NP_938148.1:p.Val725Ile
NM_001278192.2:c.1897G>A	NP_001265121.1:p.Val633Ile
NM_001278193.2:c.1831G>A	NP_001265122.1:p.Val611Ile
NM_001329223.2:c.1882G>A	NP_001316152.1:p.Val628Ile
NM_001329225.2:c.1450G>A	NP_001316154.1:p.Val484Ile
NM_198335.4:c.2239G>A	NP_938149.2:p.Val747Ile
NM_001278194.2:c.1882G>A	NP_001265123.1:p.Val628Ile
NM_001329222.2:c.1882G>A	NP_001316151.1:p.Val628Ile
NM_001329224.2:c.1450G>A	NP_001316153.1:p.Val484Ile