Canonical Allele Identifier: CA656816783
Gene: GAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81358068T>C , CM000678.2:g.81358068T>C GRCh38
NC_000016.9:g.81391673T>C , CM000678.1:g.81391673T>C GRCh37
NC_000016.8:g.79949174T>C NCBI36
NG_009007.1:g.48103T>C , LRG_242:g.48103T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*681+137T>C ENSP00000498114.1:n.*681+137T>C
ENST00000648994.2:c.973+137T>C MANE Select ENSP00000497351.1:n.973+137T>C
ENST00000650388.1:c.507+137T>C ENSP00000498081.1:n.507+137T>C
ENST00000568107.2:c.973+137T>C ENSP00000476795.1:n.973+137T>C
NM_022041.3:c.973+137T>C , LRG_242t1:c.973+137T>C NP_071324.1:n.973+137T>C
XM_017023734.1:c.334+137T>C XP_016879223.1:n.334+137T>C
NM_001377486.1:c.334+137T>C NP_001364415.1:n.334+137T>C
NM_022041.4:c.973+137T>C MANE Select NP_071324.1:n.973+137T>C