Canonical Allele Identifier: CA496795077
Gene: GAN HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.81388100T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81354495T>C , CM000678.2:g.81354495T>C GRCh38
NC_000016.9:g.81388100T>C , CM000678.1:g.81388100T>C GRCh37
NC_000016.8:g.79945601T>C NCBI36
NG_009007.1:g.44530T>C , LRG_242:g.44530T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000648349.2:c.*81T>C ENSP00000498114.1:n.*81T>C
ENST00000648994.2:c.373T>C MANE Select ENSP00000497351.1:p.Leu125=
ENST00000650388.1:c.168-2290T>C ENSP00000498081.1:n.168-2290T>C
ENST00000674788.1:n.498T>C
ENST00000568107.2:c.373T>C ENSP00000476795.1:p.Leu125=
NM_022041.3:c.373T>C , LRG_242t1:c.373T>C NP_071324.1:p.Leu125=
XM_017023734.1:c.-267T>C XP_016879223.1:n.-267T>C
NM_001377486.1:c.-267T>C NP_001364415.1:n.-267T>C
NM_022041.4:c.373T>C MANE Select NP_071324.1:p.Leu125=