Canonical Allele Identifier: CA396891423
Gene: GAN HGNC NCBI

Linked Data

gnomAD v4: 16-81365434-G-C
MyVariant Identifiers: chr16:g.81399039G>C (hg19) chr16:g.81365434G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81365434G>C , CM000678.2:g.81365434G>C GRCh38
NC_000016.9:g.81399039G>C , CM000678.1:g.81399039G>C GRCh37
NC_000016.8:g.79956540G>C NCBI36
NG_009007.1:g.55469G>C , LRG_242:g.55469G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000648349.2:c.*1166G>C ENSP00000498114.1:n.*1166G>C
ENST00000648994.2:c.1458G>C MANE Select ENSP00000497351.1:p.Glu486Asp
ENST00000650388.1:c.992G>C ENSP00000498081.1:n.992G>C
ENST00000567335.1:n.16G>C
ENST00000568107.2:c.1458G>C ENSP00000476795.1:p.Glu486Asp
NM_022041.3:c.1458G>C , LRG_242t1:c.1458G>C NP_071324.1:p.Glu486Asp
XM_017023734.1:c.819G>C XP_016879223.1:p.Glu273Asp
NM_001377486.1:c.819G>C NP_001364415.1:p.Glu273Asp
NM_022041.4:c.1458G>C MANE Select NP_071324.1:p.Glu486Asp
Search 100 bp 5'
Search 100 bp 3'