Canonical Allele Identifier: CA8191393
Gene: GAN HGNC NCBI

Linked Data

ClinVar Variation Id: 246037
ClinVar RCV Id: RCV000235679 RCV001857809
dbSNP Id: rs766484755
ExAC: 16:81388292 G / T
gnomAD v2: 16-81388292-G-T
gnomAD v4: 16-81354687-G-T
COSMIC: COSM6079874
MyVariant Identifiers: chr16:g.81388292G>T (hg19) chr16:g.81354687G>T (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*273G>T ENSP00000498114.1:n.*273G>T
ENST00000648994.2:c.565G>T MANE Select ENSP00000497351.1:p.Val189Phe
ENST00000650388.1:c.168-2098G>T ENSP00000498081.1:n.168-2098G>T
ENST00000674788.1:n.690G>T
ENST00000568107.2:c.565G>T ENSP00000476795.1:p.Val189Phe
NM_022041.3:c.565G>T , LRG_242t1:c.565G>T NP_071324.1:p.Val189Phe
XM_017023734.1:c.-75G>T XP_016879223.1:n.-75G>T
NM_001377486.1:c.-75G>T NP_001364415.1:n.-75G>T
NM_022041.4:c.565G>T MANE Select NP_071324.1:p.Val189Phe
Search 100 bp 5'
Search 100 bp 3'