Canonical Allele Identifier: CA380993996

Gene: GANAB

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.62631032G>A , CM000673.2:g.62631032G>A	GRCh38
NC_000011.9:g.62398504G>A , CM000673.1:g.62398504G>A	GRCh37
NC_000011.8:g.62155080G>A	NCBI36
NG_053018.1:g.20695C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356638.8:c.1148C>T MANE Select	ENSP00000349053.3:p.Thr383Ile
ENST00000648273.1:c.857C>T	ENSP00000497655.1:p.Thr286Ile
ENST00000346178.8:c.1214C>T	ENSP00000340466.4:p.Thr405Ile
ENST00000356638.7:c.1148C>T	ENSP00000349053.3:p.Thr383Ile
ENST00000532402.5:c.*880C>T	ENSP00000432181.1:n.*880C>T
ENST00000534779.5:c.872C>T	ENSP00000435306.1:p.Thr291Ile
ENST00000540933.5:c.857C>T	ENSP00000442962.1:p.Thr286Ile
NM_001278192.1:c.872C>T	NP_001265121.1:p.Thr291Ile
NM_001278193.1:c.806C>T	NP_001265122.1:p.Thr269Ile
NM_001278194.1:c.857C>T	NP_001265123.1:p.Thr286Ile
NM_198334.2:c.1148C>T	NP_938148.1:p.Thr383Ile
NM_198335.3:c.1214C>T	NP_938149.2:p.Thr405Ile
NM_001329222.1:c.857C>T	NP_001316151.1:p.Thr286Ile
NM_001329223.1:c.857C>T	NP_001316152.1:p.Thr286Ile
NM_001329224.1:c.425C>T	NP_001316153.1:p.Thr142Ile
NM_001329225.1:c.425C>T	NP_001316154.1:p.Thr142Ile
XM_017017412.1:c.857C>T	XP_016872901.1:p.Thr286Ile
NM_198334.3:c.1148C>T MANE Select	NP_938148.1:p.Thr383Ile
NM_001278192.2:c.872C>T	NP_001265121.1:p.Thr291Ile
NM_001278193.2:c.806C>T	NP_001265122.1:p.Thr269Ile
NM_001329223.2:c.857C>T	NP_001316152.1:p.Thr286Ile
NM_001329225.2:c.425C>T	NP_001316154.1:p.Thr142Ile
NM_198335.4:c.1214C>T	NP_938149.2:p.Thr405Ile
NM_001278194.2:c.857C>T	NP_001265123.1:p.Thr286Ile
NM_001329222.2:c.857C>T	NP_001316151.1:p.Thr286Ile
NM_001329224.2:c.425C>T	NP_001316153.1:p.Thr142Ile