Canonical Allele Identifier: CA284305621
Gene: GAN HGNC NCBI

Linked Data

ClinVar Variation Id: 1004026
ClinVar RCV Id: RCV001300663
dbSNP Id: rs943541215
gnomAD v2: 16-81391431-G-T
gnomAD v3: 16-81357826-G-T
gnomAD v4: 16-81357826-G-T
MyVariant Identifiers: chr16:g.81391431G>T (hg19) chr16:g.81357826G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81357826G>T , CM000678.2:g.81357826G>T GRCh38
NC_000016.9:g.81391431G>T , CM000678.1:g.81391431G>T GRCh37
NC_000016.8:g.79948932G>T NCBI36
NG_009007.1:g.47861G>T , LRG_242:g.47861G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*576G>T ENSP00000498114.1:n.*576G>T
ENST00000648994.2:c.868G>T MANE Select ENSP00000497351.1:p.Ala290Ser
ENST00000650388.1:c.402G>T ENSP00000498081.1:n.402G>T
ENST00000568107.2:c.868G>T ENSP00000476795.1:p.Ala290Ser
NM_022041.3:c.868G>T , LRG_242t1:c.868G>T NP_071324.1:p.Ala290Ser
XM_017023734.1:c.229G>T XP_016879223.1:p.Ala77Ser
NM_001377486.1:c.229G>T NP_001364415.1:p.Ala77Ser
NM_022041.4:c.868G>T MANE Select NP_071324.1:p.Ala290Ser
Search 100 bp 5'
Search 100 bp 3'