Canonical Allele Identifier: CA2237033176
Gene: GAN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354674T= , CM000678.2:g.81354674T= GRCh38
NC_000016.9:g.81388279T= , CM000678.1:g.81388279T= GRCh37
NC_000016.8:g.79945780T= NCBI36
NG_009007.1:g.44709T= , LRG_242:g.44709T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*260T= ENSP00000498114.1:n.*260T=
ENST00000648994.2:c.552T= MANE Select ENSP00000497351.1:p.Leu184=
ENST00000650388.1:c.168-2111T= ENSP00000498081.1:n.168-2111T=
ENST00000674788.1:n.677T=
ENST00000568107.2:c.552T= ENSP00000476795.1:p.Leu184=
NM_022041.3:c.552T= , LRG_242t1:c.552T= NP_071324.1:p.Leu184=
XM_017023734.1:c.-88T= XP_016879223.1:n.-88T=
NM_001377486.1:c.-88T= NP_001364415.1:n.-88T=
NM_022041.4:c.552T= MANE Select NP_071324.1:p.Leu184=