Canonical Allele Identifier: CA8191532

Gene: GAN

Linked Data

• dbSNP Id: rs776812286
• ExAC: 16:81391457 C / G
• gnomAD v2: 16-81391457-C-G
• gnomAD v4: 16-81357852-C-G
• MyVariant Identifiers: chr16:g.81391457C>G (hg19) ; chr16:g.81357852C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81357852C>G , CM000678.2:g.81357852C>G	GRCh38
NC_000016.9:g.81391457C>G , CM000678.1:g.81391457C>G	GRCh37
NC_000016.8:g.79948958C>G	NCBI36
NG_009007.1:g.47887C>G , LRG_242:g.47887C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*602C>G	ENSP00000498114.1:n.*602C>G
ENST00000648994.2:c.894C>G MANE Select	ENSP00000497351.1:p.Leu298=
ENST00000650388.1:c.428C>G	ENSP00000498081.1:n.428C>G
ENST00000568107.2:c.894C>G	ENSP00000476795.1:p.Leu298=
NM_022041.3:c.894C>G , LRG_242t1:c.894C>G	NP_071324.1:p.Leu298=
XM_017023734.1:c.255C>G	XP_016879223.1:p.Leu85=
NM_001377486.1:c.255C>G	NP_001364415.1:p.Leu85=
NM_022041.4:c.894C>G MANE Select	NP_071324.1:p.Leu298=