Canonical Allele Identifier: CA396854935
Gene: GAN HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81315237C>G , CM000678.2:g.81315237C>G GRCh38
NC_000016.9:g.81348842C>G , CM000678.1:g.81348842C>G GRCh37
NC_000016.8:g.79906343C>G NCBI36
NG_009007.1:g.5272C>G , LRG_242:g.5272C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.124C>G ENSP00000498114.1:p.Pro42Ala
ENST00000648994.2:c.124C>G MANE Select ENSP00000497351.1:p.Pro42Ala
ENST00000650388.1:c.124C>G ENSP00000498081.1:p.Pro42Ala
ENST00000674788.1:n.249C>G
ENST00000568107.2:c.124C>G ENSP00000476795.1:p.Pro42Ala
NM_022041.3:c.124C>G , LRG_242t1:c.124C>G NP_071324.1:p.Pro42Ala
XM_017023734.1:c.-401C>G XP_016879223.1:n.-401C>G
NM_001377486.1:c.-401C>G NP_001364415.1:n.-401C>G
NM_022041.4:c.124C>G MANE Select NP_071324.1:p.Pro42Ala