Canonical Allele Identifier: CA979659469

Gene: GAN

Linked Data

• dbSNP Id: rs1910811026
• gnomAD v3: 16-81365170-C-A
• gnomAD v4: 16-81365170-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81365170C>A , CM000678.2:g.81365170C>A	GRCh38
NC_000016.9:g.81398775C>A , CM000678.1:g.81398775C>A	GRCh37
NC_000016.8:g.79956276C>A	NCBI36
NG_009007.1:g.55205C>A , LRG_242:g.55205C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*1081+60C>A	ENSP00000498114.1:n.*1081+60C>A
ENST00000648994.2:c.1373+60C>A MANE Select	ENSP00000497351.1:n.1373+60C>A
ENST00000650388.1:c.907+60C>A	ENSP00000498081.1:n.907+60C>A
ENST00000568107.2:c.1373+60C>A	ENSP00000476795.1:n.1373+60C>A
NM_022041.3:c.1373+60C>A , LRG_242t1:c.1373+60C>A	NP_071324.1:n.1373+60C>A
XM_017023734.1:c.734+60C>A	XP_016879223.1:n.734+60C>A
NM_001377486.1:c.734+60C>A	NP_001364415.1:n.734+60C>A
NM_022041.4:c.1373+60C>A MANE Select	NP_071324.1:n.1373+60C>A