Canonical Allele Identifier: CA396869125
Gene: GAN HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.81388315T>A (hg19) chr16:g.81354710T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354710T>A , CM000678.2:g.81354710T>A GRCh38
NC_000016.9:g.81388315T>A , CM000678.1:g.81388315T>A GRCh37
NC_000016.8:g.79945816T>A NCBI36
NG_009007.1:g.44745T>A , LRG_242:g.44745T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*296T>A ENSP00000498114.1:n.*296T>A
ENST00000648994.2:c.588T>A MANE Select ENSP00000497351.1:p.Phe196Leu
ENST00000650388.1:c.168-2075T>A ENSP00000498081.1:n.168-2075T>A
ENST00000674788.1:n.713T>A
ENST00000568107.2:c.588T>A ENSP00000476795.1:p.Phe196Leu
NM_022041.3:c.588T>A , LRG_242t1:c.588T>A NP_071324.1:p.Phe196Leu
XM_017023734.1:c.-52T>A XP_016879223.1:n.-52T>A
NM_001377486.1:c.-52T>A NP_001364415.1:n.-52T>A
NM_022041.4:c.588T>A MANE Select NP_071324.1:p.Phe196Leu
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