Canonical Allele Identifier: CA2237042950
Gene: GAN HGNC NCBI

Linked Data

dbSNP Id: rs1910550119
gnomAD v4: 16-81358039-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81358039T>C , CM000678.2:g.81358039T>C GRCh38
NC_000016.9:g.81391644T>C , CM000678.1:g.81391644T>C GRCh37
NC_000016.8:g.79949145T>C NCBI36
NG_009007.1:g.48074T>C , LRG_242:g.48074T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*681+108T>C ENSP00000498114.1:n.*681+108T>C
ENST00000648994.2:c.973+108T>C MANE Select ENSP00000497351.1:n.973+108T>C
ENST00000650388.1:c.507+108T>C ENSP00000498081.1:n.507+108T>C
ENST00000568107.2:c.973+108T>C ENSP00000476795.1:n.973+108T>C
NM_022041.3:c.973+108T>C , LRG_242t1:c.973+108T>C NP_071324.1:n.973+108T>C
XM_017023734.1:c.334+108T>C XP_016879223.1:n.334+108T>C
NM_001377486.1:c.334+108T>C NP_001364415.1:n.334+108T>C
NM_022041.4:c.973+108T>C MANE Select NP_071324.1:n.973+108T>C
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