Canonical Allele Identifier: CA396873128

Gene: GAN

Linked Data

• MyVariant Identifiers: chr16:g.81391432C>A (hg19) ; chr16:g.81357827C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81357827C>A , CM000678.2:g.81357827C>A	GRCh38
NC_000016.9:g.81391432C>A , CM000678.1:g.81391432C>A	GRCh37
NC_000016.8:g.79948933C>A	NCBI36
NG_009007.1:g.47862C>A , LRG_242:g.47862C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*577C>A	ENSP00000498114.1:n.*577C>A
ENST00000648994.2:c.869C>A MANE Select	ENSP00000497351.1:p.Ala290Glu
ENST00000650388.1:c.403C>A	ENSP00000498081.1:n.403C>A
ENST00000568107.2:c.869C>A	ENSP00000476795.1:p.Ala290Glu
NM_022041.3:c.869C>A , LRG_242t1:c.869C>A	NP_071324.1:p.Ala290Glu
XM_017023734.1:c.230C>A	XP_016879223.1:p.Ala77Glu
NM_001377486.1:c.230C>A	NP_001364415.1:p.Ala77Glu
NM_022041.4:c.869C>A MANE Select	NP_071324.1:p.Ala290Glu