Canonical Allele Identifier: CA13265812
Community Standard Title: NC_000010.11:g.49613145G>T
Gene: CHAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49613145G>T , CM000672.2:g.49613145G>T GRCh38
NC_000010.10:g.50821191G>T , CM000672.1:g.50821191G>T GRCh37
NC_000010.9:g.50491197G>T NCBI36
NG_011797.1:g.9051G>T
NG_053144.1:g.7845G>T

Transcript Alleles

HGVS Amino-acid Change
NM_020984.3:c.-68-3357G>T NP_066264.3:n.-68-3357G>T
NM_020984.4:c.-68-3357G>T NP_066264.4:n.-68-3357G>T
NM_020985.3:c.-298G>T NP_066265.3:n.-298G>T
NM_020985.4:c.-298G>T NP_066265.4:n.-298G>T
NM_020986.3:c.-126G>T NP_066266.3:n.-126G>T
NM_020986.4:c.-126G>T NP_066266.4:n.-126G>T
ENST00000339797.5:c.-68-3357G>T ENSP00000343486.1:n.-68-3357G>T
ENST00000351556.7:c.-298G>T ENSP00000345878.3:n.-298G>T
ENST00000395559.6:c.-126G>T ENSP00000378926.2:n.-126G>T
ENST00000460699.5:n.38G>T
ENST00000481336.5:n.27G>T