Canonical Allele Identifier: CA376729990

Gene: CHAT

Linked Data

• dbSNP Id: rs1181625101
• gnomAD v2: 10-50833592-C-T
• gnomAD v4: 10-49625546-C-T
• MyVariant Identifiers: chr10:g.50833592C>T (hg19) ; chr10:g.49625546C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49625546C>T , CM000672.2:g.49625546C>T	GRCh38
NC_000010.10:g.50833592C>T , CM000672.1:g.50833592C>T	GRCh37
NC_000010.9:g.50503598C>T	NCBI36
NG_011797.1:g.21452C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337653.7:c.826C>T MANE Select	ENSP00000337103.2:p.Leu276Phe
ENST00000337653.6:c.826C>T	ENSP00000337103.2:p.Leu276Phe
ENST00000339797.5:c.472C>T	ENSP00000343486.1:p.Leu158Phe
ENST00000351556.7:c.472C>T	ENSP00000345878.3:p.Leu158Phe
ENST00000395559.6:c.472C>T	ENSP00000378926.2:p.Leu158Phe
ENST00000395562.2:c.580C>T	ENSP00000378929.2:p.Leu194Phe
ENST00000466590.6:c.*557C>T	ENSP00000473443.1:n.*557C>T
NM_001142929.1:c.472C>T	NP_001136401.1:p.Leu158Phe
NM_001142933.1:c.580C>T	NP_001136405.1:p.Leu194Phe
NM_001142934.1:c.472C>T	NP_001136406.1:p.Leu158Phe
NM_020549.4:c.826C>T	NP_065574.3:p.Leu276Phe
NM_020984.3:c.472C>T	NP_066264.3:p.Leu158Phe
NM_020985.3:c.472C>T	NP_066265.3:p.Leu158Phe
NM_020986.3:c.472C>T	NP_066266.3:p.Leu158Phe
NM_001142929.2:c.472C>T	NP_001136401.2:p.Leu158Phe
NM_001142933.2:c.580C>T	NP_001136405.2:p.Leu194Phe
NM_001142934.2:c.472C>T	NP_001136406.2:p.Leu158Phe
NM_020549.5:c.826C>T MANE Select	NP_065574.4:p.Leu276Phe
NM_020984.4:c.472C>T	NP_066264.4:p.Leu158Phe
NM_020985.4:c.472C>T	NP_066265.4:p.Leu158Phe
NM_020986.4:c.472C>T	NP_066266.4:p.Leu158Phe