Canonical Allele Identifier: CA206626293

Gene: CHAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49621907C>T , CM000672.2:g.49621907C>T	GRCh38
NC_000010.10:g.50829953C>T , CM000672.1:g.50829953C>T	GRCh37
NC_000010.9:g.50499959C>T	NCBI36
NG_011797.1:g.17813C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020549.5:c.699-190C>T MANE Select	NP_065574.4:n.699-190C>T
ENST00000337653.7:c.699-190C>T MANE Select	ENSP00000337103.2:n.699-190C>T
NM_001142929.1:c.345-190C>T	NP_001136401.1:n.345-190C>T
NM_001142929.2:c.345-190C>T	NP_001136401.2:n.345-190C>T
NM_001142933.1:c.453-190C>T	NP_001136405.1:n.453-190C>T
NM_001142933.2:c.453-190C>T	NP_001136405.2:n.453-190C>T
NM_001142934.1:c.345-190C>T	NP_001136406.1:n.345-190C>T
NM_001142934.2:c.345-190C>T	NP_001136406.2:n.345-190C>T
NM_020549.4:c.699-190C>T	NP_065574.3:n.699-190C>T
NM_020984.3:c.345-190C>T	NP_066264.3:n.345-190C>T
NM_020984.4:c.345-190C>T	NP_066264.4:n.345-190C>T
NM_020985.3:c.345-190C>T	NP_066265.3:n.345-190C>T
NM_020985.4:c.345-190C>T	NP_066265.4:n.345-190C>T
NM_020986.3:c.345-190C>T	NP_066266.3:n.345-190C>T
NM_020986.4:c.345-190C>T	NP_066266.4:n.345-190C>T
ENST00000337653.6:c.699-190C>T	ENSP00000337103.2:n.699-190C>T
ENST00000339797.5:c.345-190C>T	ENSP00000343486.1:n.345-190C>T
ENST00000351556.7:c.345-190C>T	ENSP00000345878.3:n.345-190C>T
ENST00000395559.6:c.345-190C>T	ENSP00000378926.2:n.345-190C>T
ENST00000395562.2:c.453-190C>T	ENSP00000378929.2:n.453-190C>T
ENST00000460699.5:n.680-190C>T
ENST00000466590.6:c.*430-190C>T	ENSP00000473443.1:n.*430-190C>T