Canonical Allele Identifier: CA8191392
Gene: GAN HGNC NCBI

Linked Data

ClinVar Variation Id: 1060105
ClinVar RCV Id: RCV001369486
dbSNP Id: rs766484755
ExAC: 16:81388292 G / A
gnomAD v2: 16-81388292-G-A
gnomAD v3: 16-81354687-G-A
gnomAD v4: 16-81354687-G-A
MyVariant Identifiers: chr16:g.81388292G>A (hg19) chr16:g.81354687G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354687G>A , CM000678.2:g.81354687G>A GRCh38
NC_000016.9:g.81388292G>A , CM000678.1:g.81388292G>A GRCh37
NC_000016.8:g.79945793G>A NCBI36
NG_009007.1:g.44722G>A , LRG_242:g.44722G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*273G>A ENSP00000498114.1:n.*273G>A
ENST00000648994.2:c.565G>A MANE Select ENSP00000497351.1:p.Val189Ile
ENST00000650388.1:c.168-2098G>A ENSP00000498081.1:n.168-2098G>A
ENST00000674788.1:n.690G>A
ENST00000568107.2:c.565G>A ENSP00000476795.1:p.Val189Ile
NM_022041.3:c.565G>A , LRG_242t1:c.565G>A NP_071324.1:p.Val189Ile
XM_017023734.1:c.-75G>A XP_016879223.1:n.-75G>A
NM_001377486.1:c.-75G>A NP_001364415.1:n.-75G>A
NM_022041.4:c.565G>A MANE Select NP_071324.1:p.Val189Ile
Search 100 bp 5'
Search 100 bp 3'