Canonical Allele Identifier: CA396873523

Gene: GAN

Linked Data

• ClinVar Variation Id: 2055896
• ClinVar RCV Id: RCV002938276
• gnomAD v4: 16-81357914-A-G
• MyVariant Identifiers: chr16:g.81391519A>G (hg19) ; chr16:g.81357914A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81357914A>G , CM000678.2:g.81357914A>G	GRCh38
NC_000016.9:g.81391519A>G , CM000678.1:g.81391519A>G	GRCh37
NC_000016.8:g.79949020A>G	NCBI36
NG_009007.1:g.47949A>G , LRG_242:g.47949A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000648349.2:c.*664A>G	ENSP00000498114.1:n.*664A>G
ENST00000648994.2:c.956A>G MANE Select	ENSP00000497351.1:p.His319Arg
ENST00000650388.1:c.490A>G	ENSP00000498081.1:n.490A>G
ENST00000568107.2:c.956A>G	ENSP00000476795.1:p.His319Arg
NM_022041.3:c.956A>G , LRG_242t1:c.956A>G	NP_071324.1:p.His319Arg
XM_017023734.1:c.317A>G	XP_016879223.1:p.His106Arg
NM_001377486.1:c.317A>G	NP_001364415.1:p.His106Arg
NM_022041.4:c.956A>G MANE Select	NP_071324.1:p.His319Arg