Canonical Allele Identifier: CA979634548
Gene: GAN HGNC NCBI

Linked Data

dbSNP Id: rs1908973223
gnomAD v3: 16-81314991-A-G
gnomAD v4: 16-81314991-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81314991A>G , CM000678.2:g.81314991A>G GRCh38
NC_000016.9:g.81348596A>G , CM000678.1:g.81348596A>G GRCh37
NC_000016.8:g.79906097A>G NCBI36
NG_009007.1:g.5026A>G , LRG_242:g.5026A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.-123A>G ENSP00000498114.1:n.-123A>G
ENST00000648994.2:c.-123A>G MANE Select ENSP00000497351.1:n.-123A>G
ENST00000674788.1:n.3A>G
ENST00000568107.2:c.-123A>G ENSP00000476795.1:n.-123A>G
NM_022041.3:c.-123A>G , LRG_242t1:c.-123A>G NP_071324.1:n.-123A>G
XM_017023734.1:c.-647A>G XP_016879223.1:n.-647A>G
NM_001377486.1:c.-647A>G NP_001364415.1:n.-647A>G
NM_022041.4:c.-123A>G MANE Select NP_071324.1:n.-123A>G
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