Canonical Allele Identifier: CA2237043179
Gene: GAN HGNC NCBI

Linked Data

dbSNP Id: rs1910553666

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81358151T>C , CM000678.2:g.81358151T>C GRCh38
NC_000016.9:g.81391756T>C , CM000678.1:g.81391756T>C GRCh37
NC_000016.8:g.79949257T>C NCBI36
NG_009007.1:g.48186T>C , LRG_242:g.48186T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*681+220T>C ENSP00000498114.1:n.*681+220T>C
ENST00000648994.2:c.973+220T>C MANE Select ENSP00000497351.1:n.973+220T>C
ENST00000650388.1:c.507+220T>C ENSP00000498081.1:n.507+220T>C
ENST00000568107.2:c.973+220T>C ENSP00000476795.1:n.973+220T>C
NM_022041.3:c.973+220T>C , LRG_242t1:c.973+220T>C NP_071324.1:n.973+220T>C
XM_017023734.1:c.334+220T>C XP_016879223.1:n.334+220T>C
NM_001377486.1:c.334+220T>C NP_001364415.1:n.334+220T>C
NM_022041.4:c.973+220T>C MANE Select NP_071324.1:n.973+220T>C