Canonical Allele Identifier: CA253392
Gene: GAN HGNC NCBI

Linked Data

ClinVar Variation Id: 5031
ClinVar RCV Id: RCV000005334
dbSNP Id: rs119485089

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81365423C>T , CM000678.2:g.81365423C>T GRCh38
NC_000016.9:g.81399028C>T , CM000678.1:g.81399028C>T GRCh37
NC_000016.8:g.79956529C>T NCBI36
NG_009007.1:g.55458C>T , LRG_242:g.55458C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000648349.2:c.*1155C>T ENSP00000498114.1:n.*1155C>T
ENST00000648994.2:c.1447C>T MANE Select ENSP00000497351.1:p.Gln483Ter
ENST00000650388.1:c.981C>T ENSP00000498081.1:n.981C>T
ENST00000567335.1:n.5C>T
ENST00000568107.2:c.1447C>T ENSP00000476795.1:p.Gln483Ter
NM_022041.3:c.1447C>T , LRG_242t1:c.1447C>T NP_071324.1:p.Gln483Ter
XM_017023734.1:c.808C>T XP_016879223.1:p.Gln270Ter
NM_001377486.1:c.808C>T NP_001364415.1:p.Gln270Ter
NM_022041.4:c.1447C>T MANE Select NP_071324.1:p.Gln483Ter