Canonical Allele Identifier: CA8191529
Gene: GAN HGNC NCBI

Linked Data

dbSNP Id: rs773971284
ExAC: 16:81391441 G / A
gnomAD v2: 16-81391441-G-A
gnomAD v4: 16-81357836-G-A
COSMIC: COSM3818611
MyVariant Identifiers: chr16:g.81391441G>A (hg19) chr16:g.81357836G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81357836G>A , CM000678.2:g.81357836G>A GRCh38
NC_000016.9:g.81391441G>A , CM000678.1:g.81391441G>A GRCh37
NC_000016.8:g.79948942G>A NCBI36
NG_009007.1:g.47871G>A , LRG_242:g.47871G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*586G>A ENSP00000498114.1:n.*586G>A
ENST00000648994.2:c.878G>A MANE Select ENSP00000497351.1:p.Arg293Gln
ENST00000650388.1:c.412G>A ENSP00000498081.1:n.412G>A
ENST00000568107.2:c.878G>A ENSP00000476795.1:p.Arg293Gln
NM_022041.3:c.878G>A , LRG_242t1:c.878G>A NP_071324.1:p.Arg293Gln
XM_017023734.1:c.239G>A XP_016879223.1:p.Arg80Gln
NM_001377486.1:c.239G>A NP_001364415.1:p.Arg80Gln
NM_022041.4:c.878G>A MANE Select NP_071324.1:p.Arg293Gln
Search 100 bp 5'
Search 100 bp 3'