Canonical Allele Identifier: CA396891283

Gene: GAN

Linked Data

• MyVariant Identifiers: chr16:g.81398969C>G (hg19) ; chr16:g.81365364C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81365364C>G , CM000678.2:g.81365364C>G	GRCh38
NC_000016.9:g.81398969C>G , CM000678.1:g.81398969C>G	GRCh37
NC_000016.8:g.79956470C>G	NCBI36
NG_009007.1:g.55399C>G , LRG_242:g.55399C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648349.2:c.*1096C>G	ENSP00000498114.1:n.*1096C>G
ENST00000648994.2:c.1388C>G MANE Select	ENSP00000497351.1:p.Ala463Gly
ENST00000650388.1:c.922C>G	ENSP00000498081.1:n.922C>G
ENST00000568107.2:c.1388C>G	ENSP00000476795.1:p.Ala463Gly
NM_022041.3:c.1388C>G , LRG_242t1:c.1388C>G	NP_071324.1:p.Ala463Gly
XM_017023734.1:c.749C>G	XP_016879223.1:p.Ala250Gly
NM_001377486.1:c.749C>G	NP_001364415.1:p.Ala250Gly
NM_022041.4:c.1388C>G MANE Select	NP_071324.1:p.Ala463Gly