Canonical Allele Identifier: CA396865429
Community Standard Title: NM_022041.4(GAN):c.202G>T (p.Gly68Ter)
Gene: GAN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81351617G>T , CM000678.2:g.81351617G>T GRCh38
NC_000016.9:g.81385222G>T , CM000678.1:g.81385222G>T GRCh37
NC_000016.8:g.79942723G>T NCBI36
NG_009007.1:g.41652G>T , LRG_242:g.41652G>T

Transcript Alleles

HGVS Amino-acid Change
NM_022041.4:c.202G>T MANE Select NP_071324.1:p.Gly68Ter
ENST00000648994.2:c.202G>T MANE Select ENSP00000497351.1:p.Gly68Ter
NM_001377486.1:c.-357-2788G>T NP_001364415.1:n.-357-2788G>T
NM_022041.3:c.202G>T , LRG_242t1:c.202G>T NP_071324.1:p.Gly68Ter
ENST00000568107.2:c.202G>T ENSP00000476795.1:p.Gly68Ter
ENST00000648349.2:c.168-2788G>T ENSP00000498114.1:n.168-2788G>T
ENST00000650388.1:c.168-5168G>T ENSP00000498081.1:n.168-5168G>T
ENST00000674788.1:n.327G>T
XM_017023734.1:c.-357-2788G>T XP_016879223.1:n.-357-2788G>T