Canonical Allele Identifier: CA2634489361

Gene: GAN

Linked Data

• gnomAD v4: 16-81365529-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81365529C>A , CM000678.2:g.81365529C>A	GRCh38
NC_000016.9:g.81399134C>A , CM000678.1:g.81399134C>A	GRCh37
NC_000016.8:g.79956635C>A	NCBI36
NG_009007.1:g.55564C>A , LRG_242:g.55564C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*1210+51C>A	ENSP00000498114.1:n.*1210+51C>A
ENST00000648994.2:c.1502+51C>A MANE Select	ENSP00000497351.1:n.1502+51C>A
ENST00000650388.1:c.1036+51C>A	ENSP00000498081.1:n.1036+51C>A
ENST00000567335.1:n.60+51C>A
ENST00000568107.2:c.1502+51C>A	ENSP00000476795.1:n.1502+51C>A
NM_022041.3:c.1502+51C>A , LRG_242t1:c.1502+51C>A	NP_071324.1:n.1502+51C>A
XM_017023734.1:c.863+51C>A	XP_016879223.1:n.863+51C>A
NM_001377486.1:c.863+51C>A	NP_001364415.1:n.863+51C>A
NM_022041.4:c.1502+51C>A MANE Select	NP_071324.1:n.1502+51C>A