Canonical Allele Identifier: CA284270071
Gene: GAN HGNC NCBI

Linked Data

ClinVar Variation Id: 965559
ClinVar RCV Id: RCV001240044 RCV002393614
dbSNP Id: rs750919773
gnomAD v2: 16-81399017-G-A
gnomAD v3: 16-81365412-G-A
gnomAD v4: 16-81365412-G-A
MyVariant Identifiers: chr16:g.81399017G>A (hg19) chr16:g.81365412G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81365412G>A , CM000678.2:g.81365412G>A GRCh38
NC_000016.9:g.81399017G>A , CM000678.1:g.81399017G>A GRCh37
NC_000016.8:g.79956518G>A NCBI36
NG_009007.1:g.55447G>A , LRG_242:g.55447G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000648349.2:c.*1144G>A ENSP00000498114.1:n.*1144G>A
ENST00000648994.2:c.1436G>A MANE Select ENSP00000497351.1:p.Arg479His
ENST00000650388.1:c.970G>A ENSP00000498081.1:n.970G>A
ENST00000568107.2:c.1436G>A ENSP00000476795.1:p.Arg479His
NM_022041.3:c.1436G>A , LRG_242t1:c.1436G>A NP_071324.1:p.Arg479His
XM_017023734.1:c.797G>A XP_016879223.1:p.Arg266His
NM_001377486.1:c.797G>A NP_001364415.1:p.Arg266His
NM_022041.4:c.1436G>A MANE Select NP_071324.1:p.Arg479His
Search 100 bp 5'
Search 100 bp 3'