Canonical Allele Identifier: CA496795090
Gene: GAN HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.81388120T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354515T>C , CM000678.2:g.81354515T>C GRCh38
NC_000016.9:g.81388120T>C , CM000678.1:g.81388120T>C GRCh37
NC_000016.8:g.79945621T>C NCBI36
NG_009007.1:g.44550T>C , LRG_242:g.44550T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*101T>C ENSP00000498114.1:n.*101T>C
ENST00000648994.2:c.393T>C MANE Select ENSP00000497351.1:p.Ala131=
ENST00000650388.1:c.168-2270T>C ENSP00000498081.1:n.168-2270T>C
ENST00000674788.1:n.518T>C
ENST00000568107.2:c.393T>C ENSP00000476795.1:p.Ala131=
NM_022041.3:c.393T>C , LRG_242t1:c.393T>C NP_071324.1:p.Ala131=
XM_017023734.1:c.-247T>C XP_016879223.1:n.-247T>C
NM_001377486.1:c.-247T>C NP_001364415.1:n.-247T>C
NM_022041.4:c.393T>C MANE Select NP_071324.1:p.Ala131=