Canonical Allele Identifier: CA2634487655
Gene: GAN HGNC NCBI

Linked Data

gnomAD v4: 16-81315425-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81315425G>A , CM000678.2:g.81315425G>A GRCh38
NC_000016.9:g.81349030G>A , CM000678.1:g.81349030G>A GRCh37
NC_000016.8:g.79906531G>A NCBI36
NG_009007.1:g.5460G>A , LRG_242:g.5460G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.167+145G>A ENSP00000498114.1:n.167+145G>A
ENST00000648994.2:c.167+145G>A MANE Select ENSP00000497351.1:n.167+145G>A
ENST00000650388.1:c.167+145G>A ENSP00000498081.1:n.167+145G>A
ENST00000674788.1:n.292+145G>A
ENST00000568107.2:c.167+145G>A ENSP00000476795.1:n.167+145G>A
NM_022041.3:c.167+145G>A , LRG_242t1:c.167+145G>A NP_071324.1:n.167+145G>A
XM_017023734.1:c.-358+145G>A XP_016879223.1:n.-358+145G>A
NM_001377486.1:c.-358+145G>A NP_001364415.1:n.-358+145G>A
NM_022041.4:c.167+145G>A MANE Select NP_071324.1:n.167+145G>A
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