Canonical Allele Identifier: CA496698917

Gene: GAN

Linked Data

• MyVariant Identifiers: chr16:g.81391440C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81357835C>A , CM000678.2:g.81357835C>A	GRCh38
NC_000016.9:g.81391440C>A , CM000678.1:g.81391440C>A	GRCh37
NC_000016.8:g.79948941C>A	NCBI36
NG_009007.1:g.47870C>A , LRG_242:g.47870C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*585C>A	ENSP00000498114.1:n.*585C>A
ENST00000648994.2:c.877C>A MANE Select	ENSP00000497351.1:p.Arg293=
ENST00000650388.1:c.411C>A	ENSP00000498081.1:n.411C>A
ENST00000568107.2:c.877C>A	ENSP00000476795.1:p.Arg293=
NM_022041.3:c.877C>A , LRG_242t1:c.877C>A	NP_071324.1:p.Arg293=
XM_017023734.1:c.238C>A	XP_016879223.1:p.Arg80=
NM_001377486.1:c.238C>A	NP_001364415.1:p.Arg80=
NM_022041.4:c.877C>A MANE Select	NP_071324.1:p.Arg293=