Canonical Allele Identifier: CA396891316

Gene: GAN

Linked Data

• MyVariant Identifiers: chr16:g.81398986G>A (hg19) ; chr16:g.81365381G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81365381G>A , CM000678.2:g.81365381G>A	GRCh38
NC_000016.9:g.81398986G>A , CM000678.1:g.81398986G>A	GRCh37
NC_000016.8:g.79956487G>A	NCBI36
NG_009007.1:g.55416G>A , LRG_242:g.55416G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*1113G>A	ENSP00000498114.1:n.*1113G>A
ENST00000648994.2:c.1405G>A MANE Select	ENSP00000497351.1:p.Glu469Lys
ENST00000650388.1:c.939G>A	ENSP00000498081.1:n.939G>A
ENST00000568107.2:c.1405G>A	ENSP00000476795.1:p.Glu469Lys
NM_022041.3:c.1405G>A , LRG_242t1:c.1405G>A	NP_071324.1:p.Glu469Lys
XM_017023734.1:c.766G>A	XP_016879223.1:p.Glu256Lys
NM_001377486.1:c.766G>A	NP_001364415.1:p.Glu256Lys
NM_022041.4:c.1405G>A MANE Select	NP_071324.1:p.Glu469Lys