Canonical Allele Identifier: CA2634487904
Gene: GAN HGNC NCBI

Linked Data

gnomAD v4: 16-81354759-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354759C>A , CM000678.2:g.81354759C>A GRCh38
NC_000016.9:g.81388364C>A , CM000678.1:g.81388364C>A GRCh37
NC_000016.8:g.79945865C>A NCBI36
NG_009007.1:g.44794C>A , LRG_242:g.44794C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*341+4C>A ENSP00000498114.1:n.*341+4C>A
ENST00000648994.2:c.633+4C>A MANE Select ENSP00000497351.1:n.633+4C>A
ENST00000650388.1:c.168-2026C>A ENSP00000498081.1:n.168-2026C>A
ENST00000674788.1:n.762C>A
ENST00000568107.2:c.633+4C>A ENSP00000476795.1:n.633+4C>A
NM_022041.3:c.633+4C>A , LRG_242t1:c.633+4C>A NP_071324.1:n.633+4C>A
XM_017023734.1:c.-7+4C>A XP_016879223.1:n.-7+4C>A
NM_001377486.1:c.-7+4C>A NP_001364415.1:n.-7+4C>A
NM_022041.4:c.633+4C>A MANE Select NP_071324.1:n.633+4C>A
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