Canonical Allele Identifier: CA396873556

Gene: GAN

Linked Data

• ClinVar Variation Id: 637529
• ClinVar RCV Id: RCV000789757 ; RCV002370063
• dbSNP Id: rs1597403411
• MyVariant Identifiers: chr16:g.81391536G>A (hg19) ; chr16:g.81357931G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81357931G>A , CM000678.2:g.81357931G>A	GRCh38
NC_000016.9:g.81391536G>A , CM000678.1:g.81391536G>A	GRCh37
NC_000016.8:g.79949037G>A	NCBI36
NG_009007.1:g.47966G>A , LRG_242:g.47966G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*681G>A	ENSP00000498114.1:n.*681G>A
ENST00000648994.2:c.973G>A MANE Select	ENSP00000497351.1:p.Glu325Lys
ENST00000650388.1:c.507G>A	ENSP00000498081.1:n.507G>A
ENST00000568107.2:c.973G>A	ENSP00000476795.1:p.Glu325Lys
NM_022041.3:c.973G>A , LRG_242t1:c.973G>A	NP_071324.1:p.Glu325Lys
XM_017023734.1:c.334G>A	XP_016879223.1:p.Glu112Lys
NM_001377486.1:c.334G>A	NP_001364415.1:p.Glu112Lys
NM_022041.4:c.973G>A MANE Select	NP_071324.1:p.Glu325Lys