Canonical Allele Identifier: CA496699543

Gene: GAN

Linked Data

• gnomAD v4: 16-81365413-T-G
• MyVariant Identifiers: chr16:g.81399018T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81365413T>G , CM000678.2:g.81365413T>G	GRCh38
NC_000016.9:g.81399018T>G , CM000678.1:g.81399018T>G	GRCh37
NC_000016.8:g.79956519T>G	NCBI36
NG_009007.1:g.55448T>G , LRG_242:g.55448T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000648349.2:c.*1145T>G	ENSP00000498114.1:n.*1145T>G
ENST00000648994.2:c.1437T>G MANE Select	ENSP00000497351.1:p.Arg479=
ENST00000650388.1:c.971T>G	ENSP00000498081.1:n.971T>G
ENST00000568107.2:c.1437T>G	ENSP00000476795.1:p.Arg479=
NM_022041.3:c.1437T>G , LRG_242t1:c.1437T>G	NP_071324.1:p.Arg479=
XM_017023734.1:c.798T>G	XP_016879223.1:p.Arg266=
NM_001377486.1:c.798T>G	NP_001364415.1:p.Arg266=
NM_022041.4:c.1437T>G MANE Select	NP_071324.1:p.Arg479=