Canonical Allele Identifier: CA979634618
Gene: GAN HGNC NCBI

Linked Data

gnomAD v3: 16-81315060-T-G
gnomAD v4: 16-81315060-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81315060T>G , CM000678.2:g.81315060T>G GRCh38
NC_000016.9:g.81348665T>G , CM000678.1:g.81348665T>G GRCh37
NC_000016.8:g.79906166T>G NCBI36
NG_009007.1:g.5095T>G , LRG_242:g.5095T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000648349.2:c.-54T>G ENSP00000498114.1:n.-54T>G
ENST00000648994.2:c.-54T>G MANE Select ENSP00000497351.1:n.-54T>G
ENST00000674788.1:n.72T>G
ENST00000568107.2:c.-54T>G ENSP00000476795.1:n.-54T>G
NM_022041.3:c.-54T>G , LRG_242t1:c.-54T>G NP_071324.1:n.-54T>G
XM_017023734.1:c.-578T>G XP_016879223.1:n.-578T>G
NM_001377486.1:c.-578T>G NP_001364415.1:n.-578T>G
NM_022041.4:c.-54T>G MANE Select NP_071324.1:n.-54T>G
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