Canonical Allele Identifier: CA396865590
Community Standard Title: NM_022041.4(GAN):c.215A>T (p.Lys72Met)
Gene: GAN HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.81351630A>T , CM000678.2:g.81351630A>T GRCh38
NC_000016.9:g.81385235A>T , CM000678.1:g.81385235A>T GRCh37
NC_000016.8:g.79942736A>T NCBI36
NG_009007.1:g.41665A>T , LRG_242:g.41665A>T

Transcript Alleles

HGVS Amino-acid Change
NM_022041.4:c.215A>T MANE Select NP_071324.1:p.Lys72Met
ENST00000648994.2:c.215A>T MANE Select ENSP00000497351.1:p.Lys72Met
NM_001377486.1:c.-357-2775A>T NP_001364415.1:n.-357-2775A>T
NM_022041.3:c.215A>T , LRG_242t1:c.215A>T NP_071324.1:p.Lys72Met
ENST00000568107.2:c.215A>T ENSP00000476795.1:p.Lys72Met
ENST00000648349.2:c.168-2775A>T ENSP00000498114.1:n.168-2775A>T
ENST00000650388.1:c.168-5155A>T ENSP00000498081.1:n.168-5155A>T
ENST00000674788.1:n.340A>T
XM_017023734.1:c.-357-2775A>T XP_016879223.1:n.-357-2775A>T