Canonical Allele Identifier: CA496698905

Gene: GAN

Linked Data

• dbSNP Id: rs1910540702
• gnomAD v3: 16-81357816-G-A
• gnomAD v4: 16-81357816-G-A
• MyVariant Identifiers: chr16:g.81391421G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81357816G>A , CM000678.2:g.81357816G>A	GRCh38
NC_000016.9:g.81391421G>A , CM000678.1:g.81391421G>A	GRCh37
NC_000016.8:g.79948922G>A	NCBI36
NG_009007.1:g.47851G>A , LRG_242:g.47851G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000648349.2:c.*566G>A	ENSP00000498114.1:n.*566G>A
ENST00000648994.2:c.858G>A MANE Select	ENSP00000497351.1:p.Arg286=
ENST00000650388.1:c.392G>A	ENSP00000498081.1:n.392G>A
ENST00000568107.2:c.858G>A	ENSP00000476795.1:p.Arg286=
NM_022041.3:c.858G>A , LRG_242t1:c.858G>A	NP_071324.1:p.Arg286=
XM_017023734.1:c.219G>A	XP_016879223.1:p.Arg73=
NM_001377486.1:c.219G>A	NP_001364415.1:p.Arg73=
NM_022041.4:c.858G>A MANE Select	NP_071324.1:p.Arg286=