Canonical Allele Identifier: CA496795204

Gene: GAN

Linked Data

• MyVariant Identifiers: chr16:g.81388312C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354707C>A , CM000678.2:g.81354707C>A	GRCh38
NC_000016.9:g.81388312C>A , CM000678.1:g.81388312C>A	GRCh37
NC_000016.8:g.79945813C>A	NCBI36
NG_009007.1:g.44742C>A , LRG_242:g.44742C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*293C>A	ENSP00000498114.1:n.*293C>A
ENST00000648994.2:c.585C>A MANE Select	ENSP00000497351.1:p.Val195=
ENST00000650388.1:c.168-2078C>A	ENSP00000498081.1:n.168-2078C>A
ENST00000674788.1:n.710C>A
ENST00000568107.2:c.585C>A	ENSP00000476795.1:p.Val195=
NM_022041.3:c.585C>A , LRG_242t1:c.585C>A	NP_071324.1:p.Val195=
XM_017023734.1:c.-55C>A	XP_016879223.1:n.-55C>A
NM_001377486.1:c.-55C>A	NP_001364415.1:n.-55C>A
NM_022041.4:c.585C>A MANE Select	NP_071324.1:p.Val195=