Canonical Allele Identifier: CA496699546

Gene: GAN

Linked Data

• MyVariant Identifiers: chr16:g.81399021G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81365416G>A , CM000678.2:g.81365416G>A	GRCh38
NC_000016.9:g.81399021G>A , CM000678.1:g.81399021G>A	GRCh37
NC_000016.8:g.79956522G>A	NCBI36
NG_009007.1:g.55451G>A , LRG_242:g.55451G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000648349.2:c.*1148G>A	ENSP00000498114.1:n.*1148G>A
ENST00000648994.2:c.1440G>A MANE Select	ENSP00000497351.1:p.Glu480=
ENST00000650388.1:c.974G>A	ENSP00000498081.1:n.974G>A
ENST00000568107.2:c.1440G>A	ENSP00000476795.1:p.Glu480=
NM_022041.3:c.1440G>A , LRG_242t1:c.1440G>A	NP_071324.1:p.Glu480=
XM_017023734.1:c.801G>A	XP_016879223.1:p.Glu267=
NM_001377486.1:c.801G>A	NP_001364415.1:p.Glu267=
NM_022041.4:c.1440G>A MANE Select	NP_071324.1:p.Glu480=