Canonical Allele Identifier: CA496795199

Gene: GAN

Linked Data

• ClinVar Variation Id: 1571949
• ClinVar RCV Id: RCV002219404
• dbSNP Id: rs993338852
• MyVariant Identifiers: chr16:g.81388297C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81354692C>G , CM000678.2:g.81354692C>G	GRCh38
NC_000016.9:g.81388297C>G , CM000678.1:g.81388297C>G	GRCh37
NC_000016.8:g.79945798C>G	NCBI36
NG_009007.1:g.44727C>G , LRG_242:g.44727C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*278C>G	ENSP00000498114.1:n.*278C>G
ENST00000648994.2:c.570C>G MANE Select	ENSP00000497351.1:p.Gly190=
ENST00000650388.1:c.168-2093C>G	ENSP00000498081.1:n.168-2093C>G
ENST00000674788.1:n.695C>G
ENST00000568107.2:c.570C>G	ENSP00000476795.1:p.Gly190=
NM_022041.3:c.570C>G , LRG_242t1:c.570C>G	NP_071324.1:p.Gly190=
XM_017023734.1:c.-70C>G	XP_016879223.1:n.-70C>G
NM_001377486.1:c.-70C>G	NP_001364415.1:n.-70C>G
NM_022041.4:c.570C>G MANE Select	NP_071324.1:p.Gly190=