Canonical Allele Identifier: CA2237042865
Gene: GAN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81358006C= , CM000678.2:g.81358006C= GRCh38
NC_000016.9:g.81391611C= , CM000678.1:g.81391611C= GRCh37
NC_000016.8:g.79949112C= NCBI36
NG_009007.1:g.48041C= , LRG_242:g.48041C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*681+75C= ENSP00000498114.1:n.*681+75C=
ENST00000648994.2:c.973+75C= MANE Select ENSP00000497351.1:n.973+75C=
ENST00000650388.1:c.507+75C= ENSP00000498081.1:n.507+75C=
ENST00000568107.2:c.973+75C= ENSP00000476795.1:n.973+75C=
NM_022041.3:c.973+75C= , LRG_242t1:c.973+75C= NP_071324.1:n.973+75C=
XM_017023734.1:c.334+75C= XP_016879223.1:n.334+75C=
NM_001377486.1:c.334+75C= NP_001364415.1:n.334+75C=
NM_022041.4:c.973+75C= MANE Select NP_071324.1:n.973+75C=