Canonical Allele Identifier: CA376748387

Gene: CHAT

Linked Data

• ClinVar Variation Id: 1980390
• ClinVar RCV Id: RCV002780240
• dbSNP Id: rs1840003719
• gnomAD v3: 10-49655386-G-A
• gnomAD v4: 10-49655386-G-A
• MyVariant Identifiers: chr10:g.50863432G>A (hg19) ; chr10:g.49655386G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49655386G>A , CM000672.2:g.49655386G>A	GRCh38
NC_000010.10:g.50863432G>A , CM000672.1:g.50863432G>A	GRCh37
NC_000010.9:g.50533438G>A	NCBI36
NG_011797.1:g.51292G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000337653.7:c.1777G>A MANE Select	ENSP00000337103.2:p.Ala593Thr
ENST00000638282.1:c.*614G>A	ENSP00000492646.1:n.*614G>A
ENST00000638683.1:n.414G>A
ENST00000640822.1:c.640G>A	ENSP00000491328.1:p.Ala214Thr
ENST00000337653.6:c.1777G>A	ENSP00000337103.2:p.Ala593Thr
ENST00000339797.5:c.1423G>A	ENSP00000343486.1:p.Ala475Thr
ENST00000351556.7:c.1423G>A	ENSP00000345878.3:p.Ala475Thr
ENST00000395559.6:c.1423G>A	ENSP00000378926.2:p.Ala475Thr
ENST00000395562.2:c.1531G>A	ENSP00000378929.2:p.Ala511Thr
ENST00000466590.6:c.*1508G>A	ENSP00000473443.1:n.*1508G>A
NM_001142929.1:c.1423G>A	NP_001136401.1:p.Ala475Thr
NM_001142933.1:c.1531G>A	NP_001136405.1:p.Ala511Thr
NM_001142934.1:c.1423G>A	NP_001136406.1:p.Ala475Thr
NM_020549.4:c.1777G>A	NP_065574.3:p.Ala593Thr
NM_020984.3:c.1423G>A	NP_066264.3:p.Ala475Thr
NM_020985.3:c.1423G>A	NP_066265.3:p.Ala475Thr
NM_020986.3:c.1423G>A	NP_066266.3:p.Ala475Thr
NM_001142929.2:c.1423G>A	NP_001136401.2:p.Ala475Thr
NM_001142933.2:c.1531G>A	NP_001136405.2:p.Ala511Thr
NM_001142934.2:c.1423G>A	NP_001136406.2:p.Ala475Thr
NM_020549.5:c.1777G>A MANE Select	NP_065574.4:p.Ala593Thr
NM_020984.4:c.1423G>A	NP_066264.4:p.Ala475Thr
NM_020985.4:c.1423G>A	NP_066265.4:p.Ala475Thr
NM_020986.4:c.1423G>A	NP_066266.4:p.Ala475Thr