Canonical Allele Identifier: CA2237006750

Gene: GAN

Linked Data

• dbSNP Id: rs1910824425
• gnomAD v4: 16-81365481-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81365481A>G , CM000678.2:g.81365481A>G	GRCh38
NC_000016.9:g.81399086A>G , CM000678.1:g.81399086A>G	GRCh37
NC_000016.8:g.79956587A>G	NCBI36
NG_009007.1:g.55516A>G , LRG_242:g.55516A>G

Transcript Alleles

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