Canonical Allele Identifier: CA395782690
Gene: GPT2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.46906858C>A , CM000678.2:g.46906858C>A GRCh38
NC_000016.9:g.46940770C>A , CM000678.1:g.46940770C>A GRCh37
NC_000016.8:g.45498271C>A NCBI36
NG_042110.1:g.27479C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000340124.9:c.459C>A MANE Select ENSP00000345282.4:p.Ser153Arg
ENST00000340124.8:c.459C>A ENSP00000345282.4:p.Ser153Arg
ENST00000440783.2:c.159C>A ENSP00000413804.2:p.Ser53Arg
ENST00000562132.5:c.225C>A ENSP00000457475.1:p.Ser75Arg
NM_001142466.1:c.159C>A NP_001135938.1:p.Ser53Arg
NM_001142466.2:c.159C>A NP_001135938.1:p.Ser53Arg
NM_133443.2:c.459C>A NP_597700.1:p.Ser153Arg
NM_133443.3:c.459C>A NP_597700.1:p.Ser153Arg
XM_017023790.1:c.27C>A XP_016879279.1:p.Ser9Arg
NM_133443.4:c.459C>A MANE Select NP_597700.1:p.Ser153Arg
NM_001142466.3:c.159C>A NP_001135938.1:p.Ser53Arg