Canonical Allele Identifier: CA2237042201
Gene: GAN HGNC NCBI

Linked Data

dbSNP Id: rs1264645100
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81357767G>C , CM000678.2:g.81357767G>C GRCh38
NC_000016.9:g.81391372G>C , CM000678.1:g.81391372G>C GRCh37
NC_000016.8:g.79948873G>C NCBI36
NG_009007.1:g.47802G>C , LRG_242:g.47802G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*560-43G>C ENSP00000498114.1:n.*560-43G>C
ENST00000648994.2:c.852-43G>C MANE Select ENSP00000497351.1:n.852-43G>C
ENST00000650388.1:c.386-43G>C ENSP00000498081.1:n.386-43G>C
ENST00000568107.2:c.852-43G>C ENSP00000476795.1:n.852-43G>C
NM_022041.3:c.852-43G>C , LRG_242t1:c.852-43G>C NP_071324.1:n.852-43G>C
XM_017023734.1:c.213-43G>C XP_016879223.1:n.213-43G>C
NM_001377486.1:c.213-43G>C NP_001364415.1:n.213-43G>C
NM_022041.4:c.852-43G>C MANE Select NP_071324.1:n.852-43G>C
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