Canonical Allele Identifier: CA8191543

Gene: GAN

Linked Data

• ClinVar Variation Id: 860580
• ClinVar RCV Id: RCV001066910
• dbSNP Id: rs779893652
• ExAC: 16:81391518 C / A
• gnomAD v2: 16-81391518-C-A
• gnomAD v3: 16-81357913-C-A
• gnomAD v4: 16-81357913-C-A
• MyVariant Identifiers: chr16:g.81391518C>A (hg19) ; chr16:g.81357913C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81357913C>A , CM000678.2:g.81357913C>A	GRCh38
NC_000016.9:g.81391518C>A , CM000678.1:g.81391518C>A	GRCh37
NC_000016.8:g.79949019C>A	NCBI36
NG_009007.1:g.47948C>A , LRG_242:g.47948C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000648349.2:c.*663C>A	ENSP00000498114.1:n.*663C>A
ENST00000648994.2:c.955C>A MANE Select	ENSP00000497351.1:p.His319Asn
ENST00000650388.1:c.489C>A	ENSP00000498081.1:n.489C>A
ENST00000568107.2:c.955C>A	ENSP00000476795.1:p.His319Asn
NM_022041.3:c.955C>A , LRG_242t1:c.955C>A	NP_071324.1:p.His319Asn
XM_017023734.1:c.316C>A	XP_016879223.1:p.His106Asn
NM_001377486.1:c.316C>A	NP_001364415.1:p.His106Asn
NM_022041.4:c.955C>A MANE Select	NP_071324.1:p.His319Asn