Canonical Allele Identifier: CA8191406
Gene: GAN HGNC NCBI

Linked Data

ClinVar Variation Id: 2152463
ClinVar RCV Id: RCV003079302
dbSNP Id: rs773738279
ExAC: 16:81388370 A / G
gnomAD v2: 16-81388370-A-G
gnomAD v3: 16-81354765-A-G
gnomAD v4: 16-81354765-A-G
MyVariant Identifiers: chr16:g.81388370A>G (hg19) chr16:g.81354765A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354765A>G , CM000678.2:g.81354765A>G GRCh38
NC_000016.9:g.81388370A>G , CM000678.1:g.81388370A>G GRCh37
NC_000016.8:g.79945871A>G NCBI36
NG_009007.1:g.44800A>G , LRG_242:g.44800A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*341+10A>G ENSP00000498114.1:n.*341+10A>G
ENST00000648994.2:c.633+10A>G MANE Select ENSP00000497351.1:n.633+10A>G
ENST00000650388.1:c.168-2020A>G ENSP00000498081.1:n.168-2020A>G
ENST00000674788.1:n.768A>G
ENST00000568107.2:c.633+10A>G ENSP00000476795.1:n.633+10A>G
NM_022041.3:c.633+10A>G , LRG_242t1:c.633+10A>G NP_071324.1:n.633+10A>G
XM_017023734.1:c.-7+10A>G XP_016879223.1:n.-7+10A>G
NM_001377486.1:c.-7+10A>G NP_001364415.1:n.-7+10A>G
NM_022041.4:c.633+10A>G MANE Select NP_071324.1:n.633+10A>G
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