Canonical Allele Identifier: CA257981

Gene: CHAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49651888G>T , CM000672.2:g.49651888G>T	GRCh38
NC_000010.10:g.50859934G>T , CM000672.1:g.50859934G>T	GRCh37
NC_000010.9:g.50529940G>T	NCBI36
NG_011797.1:g.47794G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020549.5:c.1516G>T MANE Select	NP_065574.4:p.Val506Leu
ENST00000337653.7:c.1516G>T MANE Select	ENSP00000337103.2:p.Val506Leu
NM_001142929.1:c.1162G>T	NP_001136401.1:p.Val388Leu
NM_001142929.2:c.1162G>T	NP_001136401.2:p.Val388Leu
NM_001142933.1:c.1270G>T	NP_001136405.1:p.Val424Leu
NM_001142933.2:c.1270G>T	NP_001136405.2:p.Val424Leu
NM_001142934.1:c.1162G>T	NP_001136406.1:p.Val388Leu
NM_001142934.2:c.1162G>T	NP_001136406.2:p.Val388Leu
NM_020549.4:c.1516G>T	NP_065574.3:p.Val506Leu
NM_020984.3:c.1162G>T	NP_066264.3:p.Val388Leu
NM_020984.4:c.1162G>T	NP_066264.4:p.Val388Leu
NM_020985.3:c.1162G>T	NP_066265.3:p.Val388Leu
NM_020985.4:c.1162G>T	NP_066265.4:p.Val388Leu
NM_020986.3:c.1162G>T	NP_066266.3:p.Val388Leu
NM_020986.4:c.1162G>T	NP_066266.4:p.Val388Leu
ENST00000337653.6:c.1516G>T	ENSP00000337103.2:p.Val506Leu
ENST00000339797.5:c.1162G>T	ENSP00000343486.1:p.Val388Leu
ENST00000351556.7:c.1162G>T	ENSP00000345878.3:p.Val388Leu
ENST00000395559.6:c.1162G>T	ENSP00000378926.2:p.Val388Leu
ENST00000395562.2:c.1270G>T	ENSP00000378929.2:p.Val424Leu
ENST00000466590.6:c.*1247G>T	ENSP00000473443.1:n.*1247G>T
ENST00000638282.1:c.*353G>T	ENSP00000492646.1:n.*353G>T
ENST00000638683.1:n.153G>T
ENST00000640822.1:c.379G>T	ENSP00000491328.1:p.Val127Leu