Canonical Allele Identifier: CA496795167
Gene: GAN HGNC NCBI

Linked Data

gnomAD v4: 16-81354641-G-A
MyVariant Identifiers: chr16:g.81388246G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354641G>A , CM000678.2:g.81354641G>A GRCh38
NC_000016.9:g.81388246G>A , CM000678.1:g.81388246G>A GRCh37
NC_000016.8:g.79945747G>A NCBI36
NG_009007.1:g.44676G>A , LRG_242:g.44676G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*227G>A ENSP00000498114.1:n.*227G>A
ENST00000648994.2:c.519G>A MANE Select ENSP00000497351.1:p.Leu173=
ENST00000650388.1:c.168-2144G>A ENSP00000498081.1:n.168-2144G>A
ENST00000674788.1:n.644G>A
ENST00000568107.2:c.519G>A ENSP00000476795.1:p.Leu173=
NM_022041.3:c.519G>A , LRG_242t1:c.519G>A NP_071324.1:p.Leu173=
XM_017023734.1:c.-121G>A XP_016879223.1:n.-121G>A
NM_001377486.1:c.-121G>A NP_001364415.1:n.-121G>A
NM_022041.4:c.519G>A MANE Select NP_071324.1:p.Leu173=
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