Canonical Allele Identifier: CA396867474
Gene: GAN HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.81388059T>C (hg19) chr16:g.81354454T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354454T>C , CM000678.2:g.81354454T>C GRCh38
NC_000016.9:g.81388059T>C , CM000678.1:g.81388059T>C GRCh37
NC_000016.8:g.79945560T>C NCBI36
NG_009007.1:g.44489T>C , LRG_242:g.44489T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000648349.2:c.*40T>C ENSP00000498114.1:n.*40T>C
ENST00000648994.2:c.332T>C MANE Select ENSP00000497351.1:p.Leu111Pro
ENST00000650388.1:c.168-2331T>C ENSP00000498081.1:n.168-2331T>C
ENST00000674788.1:n.457T>C
ENST00000568107.2:c.332T>C ENSP00000476795.1:p.Leu111Pro
NM_022041.3:c.332T>C , LRG_242t1:c.332T>C NP_071324.1:p.Leu111Pro
XM_017023734.1:c.-308T>C XP_016879223.1:n.-308T>C
NM_001377486.1:c.-308T>C NP_001364415.1:n.-308T>C
NM_022041.4:c.332T>C MANE Select NP_071324.1:p.Leu111Pro
Search 100 bp 5'
Search 100 bp 3'