Canonical Allele Identifier: CA8191528
Gene: GAN HGNC NCBI

Linked Data

dbSNP Id: rs749264810
ExAC: 16:81391436 G / C
gnomAD v2: 16-81391436-G-C
gnomAD v3: 16-81357831-G-C
gnomAD v4: 16-81357831-G-C
MyVariant Identifiers: chr16:g.81391436G>C (hg19) chr16:g.81357831G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81357831G>C , CM000678.2:g.81357831G>C GRCh38
NC_000016.9:g.81391436G>C , CM000678.1:g.81391436G>C GRCh37
NC_000016.8:g.79948937G>C NCBI36
NG_009007.1:g.47866G>C , LRG_242:g.47866G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*581G>C ENSP00000498114.1:n.*581G>C
ENST00000648994.2:c.873G>C MANE Select ENSP00000497351.1:p.Ala291=
ENST00000650388.1:c.407G>C ENSP00000498081.1:n.407G>C
ENST00000568107.2:c.873G>C ENSP00000476795.1:p.Ala291=
NM_022041.3:c.873G>C , LRG_242t1:c.873G>C NP_071324.1:p.Ala291=
XM_017023734.1:c.234G>C XP_016879223.1:p.Ala78=
NM_001377486.1:c.234G>C NP_001364415.1:p.Ala78=
NM_022041.4:c.873G>C MANE Select NP_071324.1:p.Ala291=
Search 100 bp 5'
Search 100 bp 3'