Canonical Allele Identifier: CA2634489122

Gene: GAN

Linked Data

• gnomAD v4: 16-81365149-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81365149T>C , CM000678.2:g.81365149T>C	GRCh38
NC_000016.9:g.81398754T>C , CM000678.1:g.81398754T>C	GRCh37
NC_000016.8:g.79956255T>C	NCBI36
NG_009007.1:g.55184T>C , LRG_242:g.55184T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*1081+39T>C	ENSP00000498114.1:n.*1081+39T>C
ENST00000648994.2:c.1373+39T>C MANE Select	ENSP00000497351.1:n.1373+39T>C
ENST00000650388.1:c.907+39T>C	ENSP00000498081.1:n.907+39T>C
ENST00000568107.2:c.1373+39T>C	ENSP00000476795.1:n.1373+39T>C
NM_022041.3:c.1373+39T>C , LRG_242t1:c.1373+39T>C	NP_071324.1:n.1373+39T>C
XM_017023734.1:c.734+39T>C	XP_016879223.1:n.734+39T>C
NM_001377486.1:c.734+39T>C	NP_001364415.1:n.734+39T>C
NM_022041.4:c.1373+39T>C MANE Select	NP_071324.1:n.1373+39T>C