Canonical Allele Identifier: CA376747162

Gene: CHAT

Linked Data

• COSMIC: COSM5571489 ; COSM5571490
• MyVariant Identifiers: chr10:g.50863158T>C (hg19) ; chr10:g.49655112T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49655112T>C , CM000672.2:g.49655112T>C	GRCh38
NC_000010.10:g.50863158T>C , CM000672.1:g.50863158T>C	GRCh37
NC_000010.9:g.50533164T>C	NCBI36
NG_011797.1:g.51018T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337653.7:c.1652T>C MANE Select	ENSP00000337103.2:p.Val551Ala
ENST00000638282.1:c.*489T>C	ENSP00000492646.1:n.*489T>C
ENST00000638683.1:n.289T>C
ENST00000640822.1:c.515T>C	ENSP00000491328.1:p.Val172Ala
ENST00000337653.6:c.1652T>C	ENSP00000337103.2:p.Val551Ala
ENST00000339797.5:c.1298T>C	ENSP00000343486.1:p.Val433Ala
ENST00000351556.7:c.1298T>C	ENSP00000345878.3:p.Val433Ala
ENST00000395559.6:c.1298T>C	ENSP00000378926.2:p.Val433Ala
ENST00000395562.2:c.1406T>C	ENSP00000378929.2:p.Val469Ala
ENST00000466590.6:c.*1383T>C	ENSP00000473443.1:n.*1383T>C
NM_001142929.1:c.1298T>C	NP_001136401.1:p.Val433Ala
NM_001142933.1:c.1406T>C	NP_001136405.1:p.Val469Ala
NM_001142934.1:c.1298T>C	NP_001136406.1:p.Val433Ala
NM_020549.4:c.1652T>C	NP_065574.3:p.Val551Ala
NM_020984.3:c.1298T>C	NP_066264.3:p.Val433Ala
NM_020985.3:c.1298T>C	NP_066265.3:p.Val433Ala
NM_020986.3:c.1298T>C	NP_066266.3:p.Val433Ala
NM_001142929.2:c.1298T>C	NP_001136401.2:p.Val433Ala
NM_001142933.2:c.1406T>C	NP_001136405.2:p.Val469Ala
NM_001142934.2:c.1298T>C	NP_001136406.2:p.Val433Ala
NM_020549.5:c.1652T>C MANE Select	NP_065574.4:p.Val551Ala
NM_020984.4:c.1298T>C	NP_066264.4:p.Val433Ala
NM_020985.4:c.1298T>C	NP_066265.4:p.Val433Ala
NM_020986.4:c.1298T>C	NP_066266.4:p.Val433Ala