Canonical Allele Identifier: CA284305888

Gene: GAN

Linked Data

• dbSNP Id: rs1055645851
• gnomAD v3: 16-81358275-T-G
• gnomAD v4: 16-81358275-T-G
• MyVariant Identifiers: chr16:g.81391880T>G (hg19) ; chr16:g.81358275T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81358275T>G , CM000678.2:g.81358275T>G	GRCh38
NC_000016.9:g.81391880T>G , CM000678.1:g.81391880T>G	GRCh37
NC_000016.8:g.79949381T>G	NCBI36
NG_009007.1:g.48310T>G , LRG_242:g.48310T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*681+344T>G	ENSP00000498114.1:n.*681+344T>G
ENST00000648994.2:c.973+344T>G MANE Select	ENSP00000497351.1:n.973+344T>G
ENST00000650388.1:c.507+344T>G	ENSP00000498081.1:n.507+344T>G
ENST00000568107.2:c.973+344T>G	ENSP00000476795.1:n.973+344T>G
NM_022041.3:c.973+344T>G , LRG_242t1:c.973+344T>G	NP_071324.1:n.973+344T>G
XM_017023734.1:c.334+344T>G	XP_016879223.1:n.334+344T>G
NM_001377486.1:c.334+344T>G	NP_001364415.1:n.334+344T>G
NM_022041.4:c.973+344T>G MANE Select	NP_071324.1:n.973+344T>G