Canonical Allele Identifier: CA396873370

Gene: GAN

Linked Data

• MyVariant Identifiers: chr16:g.81391477T>G (hg19) ; chr16:g.81357872T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81357872T>G , CM000678.2:g.81357872T>G	GRCh38
NC_000016.9:g.81391477T>G , CM000678.1:g.81391477T>G	GRCh37
NC_000016.8:g.79948978T>G	NCBI36
NG_009007.1:g.47907T>G , LRG_242:g.47907T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*622T>G	ENSP00000498114.1:n.*622T>G
ENST00000648994.2:c.914T>G MANE Select	ENSP00000497351.1:p.Leu305Arg
ENST00000650388.1:c.448T>G	ENSP00000498081.1:n.448T>G
ENST00000568107.2:c.914T>G	ENSP00000476795.1:p.Leu305Arg
NM_022041.3:c.914T>G , LRG_242t1:c.914T>G	NP_071324.1:p.Leu305Arg
XM_017023734.1:c.275T>G	XP_016879223.1:p.Leu92Arg
NM_001377486.1:c.275T>G	NP_001364415.1:p.Leu92Arg
NM_022041.4:c.914T>G MANE Select	NP_071324.1:p.Leu305Arg