Canonical Allele Identifier: CA8191749
Gene: GAN HGNC NCBI

Linked Data

dbSNP Id: rs372112530
ExAC: 16:81398945 G / A
gnomAD v3: 16-81365340-G-A
gnomAD v4: 16-81365340-G-A
MyVariant Identifiers: chr16:g.81398945G>A (hg19) chr16:g.81365340G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81365340G>A , CM000678.2:g.81365340G>A GRCh38
NC_000016.9:g.81398945G>A , CM000678.1:g.81398945G>A GRCh37
NC_000016.8:g.79956446G>A NCBI36
NG_009007.1:g.55375G>A , LRG_242:g.55375G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000648349.2:c.*1082-10G>A ENSP00000498114.1:n.*1082-10G>A
ENST00000648994.2:c.1374-10G>A MANE Select ENSP00000497351.1:n.1374-10G>A
ENST00000650388.1:c.908-10G>A ENSP00000498081.1:n.908-10G>A
ENST00000568107.2:c.1374-10G>A ENSP00000476795.1:n.1374-10G>A
NM_022041.3:c.1374-10G>A , LRG_242t1:c.1374-10G>A NP_071324.1:n.1374-10G>A
XM_017023734.1:c.735-10G>A XP_016879223.1:n.735-10G>A
NM_001377486.1:c.735-10G>A NP_001364415.1:n.735-10G>A
NM_022041.4:c.1374-10G>A MANE Select NP_071324.1:n.1374-10G>A
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