Canonical Allele Identifier: CA8191552

Gene: GAN

Linked Data

• dbSNP Id: rs776006892
• ExAC: 16:81391551 C / A
• gnomAD v2: 16-81391551-C-A
• gnomAD v4: 16-81357946-C-A
• MyVariant Identifiers: chr16:g.81391551C>A (hg19) ; chr16:g.81357946C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81357946C>A , CM000678.2:g.81357946C>A	GRCh38
NC_000016.9:g.81391551C>A , CM000678.1:g.81391551C>A	GRCh37
NC_000016.8:g.79949052C>A	NCBI36
NG_009007.1:g.47981C>A , LRG_242:g.47981C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*681+15C>A	ENSP00000498114.1:n.*681+15C>A
ENST00000648994.2:c.973+15C>A MANE Select	ENSP00000497351.1:n.973+15C>A
ENST00000650388.1:c.507+15C>A	ENSP00000498081.1:n.507+15C>A
ENST00000568107.2:c.973+15C>A	ENSP00000476795.1:n.973+15C>A
NM_022041.3:c.973+15C>A , LRG_242t1:c.973+15C>A	NP_071324.1:n.973+15C>A
XM_017023734.1:c.334+15C>A	XP_016879223.1:n.334+15C>A
NM_001377486.1:c.334+15C>A	NP_001364415.1:n.334+15C>A
NM_022041.4:c.973+15C>A MANE Select	NP_071324.1:n.973+15C>A