Canonical Allele Identifier: CA1908816420
Gene: CHAT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.49635683G>C , CM000672.2:g.49635683G>C GRCh38
NC_000010.10:g.50843729G>C , CM000672.1:g.50843729G>C GRCh37
NC_000010.9:g.50513735G>C NCBI36
NG_011797.1:g.31589G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000337653.7:c.1111+7898G>C MANE Select ENSP00000337103.2:n.1111+7898G>C
ENST00000337653.6:c.1111+7898G>C ENSP00000337103.2:n.1111+7898G>C
ENST00000339797.5:c.757+7898G>C ENSP00000343486.1:n.757+7898G>C
ENST00000351556.7:c.757+7898G>C ENSP00000345878.3:n.757+7898G>C
ENST00000395559.6:c.757+7898G>C ENSP00000378926.2:n.757+7898G>C
ENST00000395562.2:c.865+7898G>C ENSP00000378929.2:n.865+7898G>C
ENST00000466590.6:c.*842+7898G>C ENSP00000473443.1:n.*842+7898G>C
NM_001142929.1:c.757+7898G>C NP_001136401.1:n.757+7898G>C
NM_001142933.1:c.865+7898G>C NP_001136405.1:n.865+7898G>C
NM_001142934.1:c.757+7898G>C NP_001136406.1:n.757+7898G>C
NM_020549.4:c.1111+7898G>C NP_065574.3:n.1111+7898G>C
NM_020984.3:c.757+7898G>C NP_066264.3:n.757+7898G>C
NM_020985.3:c.757+7898G>C NP_066265.3:n.757+7898G>C
NM_020986.3:c.757+7898G>C NP_066266.3:n.757+7898G>C
NM_001142929.2:c.757+7898G>C NP_001136401.2:n.757+7898G>C
NM_001142933.2:c.865+7898G>C NP_001136405.2:n.865+7898G>C
NM_001142934.2:c.757+7898G>C NP_001136406.2:n.757+7898G>C
NM_020549.5:c.1111+7898G>C MANE Select NP_065574.4:n.1111+7898G>C
NM_020984.4:c.757+7898G>C NP_066264.4:n.757+7898G>C
NM_020985.4:c.757+7898G>C NP_066265.4:n.757+7898G>C
NM_020986.4:c.757+7898G>C NP_066266.4:n.757+7898G>C