Canonical Allele Identifier: CA284264159
Gene: GAN HGNC NCBI

Linked Data

dbSNP Id: rs934787540
gnomAD v2: 16-81348666-C-T
gnomAD v3: 16-81315061-C-T
gnomAD v4: 16-81315061-C-T
MyVariant Identifiers: chr16:g.81348666C>T (hg19) chr16:g.81315061C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81315061C>T , CM000678.2:g.81315061C>T GRCh38
NC_000016.9:g.81348666C>T , CM000678.1:g.81348666C>T GRCh37
NC_000016.8:g.79906167C>T NCBI36
NG_009007.1:g.5096C>T , LRG_242:g.5096C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000648349.2:c.-53C>T ENSP00000498114.1:n.-53C>T
ENST00000648994.2:c.-53C>T MANE Select ENSP00000497351.1:n.-53C>T
ENST00000674788.1:n.73C>T
ENST00000568107.2:c.-53C>T ENSP00000476795.1:n.-53C>T
NM_022041.3:c.-53C>T , LRG_242t1:c.-53C>T NP_071324.1:n.-53C>T
XM_017023734.1:c.-577C>T XP_016879223.1:n.-577C>T
NM_001377486.1:c.-577C>T NP_001364415.1:n.-577C>T
NM_022041.4:c.-53C>T MANE Select NP_071324.1:n.-53C>T
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