Canonical Allele Identifier: CA376748234

Gene: CHAT

Linked Data

• MyVariant Identifiers: chr10:g.50863277G>C (hg19) ; chr10:g.49655231G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49655231G>C , CM000672.2:g.49655231G>C	GRCh38
NC_000010.10:g.50863277G>C , CM000672.1:g.50863277G>C	GRCh37
NC_000010.9:g.50533283G>C	NCBI36
NG_011797.1:g.51137G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337653.7:c.1771G>C MANE Select	ENSP00000337103.2:p.Val591Leu
ENST00000638282.1:c.*608G>C	ENSP00000492646.1:n.*608G>C
ENST00000638683.1:n.408G>C
ENST00000640822.1:c.634G>C	ENSP00000491328.1:p.Val212Leu
ENST00000337653.6:c.1771G>C	ENSP00000337103.2:p.Val591Leu
ENST00000339797.5:c.1417G>C	ENSP00000343486.1:p.Val473Leu
ENST00000351556.7:c.1417G>C	ENSP00000345878.3:p.Val473Leu
ENST00000395559.6:c.1417G>C	ENSP00000378926.2:p.Val473Leu
ENST00000395562.2:c.1525G>C	ENSP00000378929.2:p.Val509Leu
ENST00000466590.6:c.*1502G>C	ENSP00000473443.1:n.*1502G>C
NM_001142929.1:c.1417G>C	NP_001136401.1:p.Val473Leu
NM_001142933.1:c.1525G>C	NP_001136405.1:p.Val509Leu
NM_001142934.1:c.1417G>C	NP_001136406.1:p.Val473Leu
NM_020549.4:c.1771G>C	NP_065574.3:p.Val591Leu
NM_020984.3:c.1417G>C	NP_066264.3:p.Val473Leu
NM_020985.3:c.1417G>C	NP_066265.3:p.Val473Leu
NM_020986.3:c.1417G>C	NP_066266.3:p.Val473Leu
NM_001142929.2:c.1417G>C	NP_001136401.2:p.Val473Leu
NM_001142933.2:c.1525G>C	NP_001136405.2:p.Val509Leu
NM_001142934.2:c.1417G>C	NP_001136406.2:p.Val473Leu
NM_020549.5:c.1771G>C MANE Select	NP_065574.4:p.Val591Leu
NM_020984.4:c.1417G>C	NP_066264.4:p.Val473Leu
NM_020985.4:c.1417G>C	NP_066265.4:p.Val473Leu
NM_020986.4:c.1417G>C	NP_066266.4:p.Val473Leu