Canonical Allele Identifier: CA376729908

Gene: CHAT

Linked Data

• MyVariant Identifiers: chr10:g.50833581A>C (hg19) ; chr10:g.49625535A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49625535A>C , CM000672.2:g.49625535A>C	GRCh38
NC_000010.10:g.50833581A>C , CM000672.1:g.50833581A>C	GRCh37
NC_000010.9:g.50503587A>C	NCBI36
NG_011797.1:g.21441A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337653.7:c.815A>C MANE Select	ENSP00000337103.2:p.Gln272Pro
ENST00000337653.6:c.815A>C	ENSP00000337103.2:p.Gln272Pro
ENST00000339797.5:c.461A>C	ENSP00000343486.1:p.Gln154Pro
ENST00000351556.7:c.461A>C	ENSP00000345878.3:p.Gln154Pro
ENST00000395559.6:c.461A>C	ENSP00000378926.2:p.Gln154Pro
ENST00000395562.2:c.569A>C	ENSP00000378929.2:p.Gln190Pro
ENST00000466590.6:c.*546A>C	ENSP00000473443.1:n.*546A>C
NM_001142929.1:c.461A>C	NP_001136401.1:p.Gln154Pro
NM_001142933.1:c.569A>C	NP_001136405.1:p.Gln190Pro
NM_001142934.1:c.461A>C	NP_001136406.1:p.Gln154Pro
NM_020549.4:c.815A>C	NP_065574.3:p.Gln272Pro
NM_020984.3:c.461A>C	NP_066264.3:p.Gln154Pro
NM_020985.3:c.461A>C	NP_066265.3:p.Gln154Pro
NM_020986.3:c.461A>C	NP_066266.3:p.Gln154Pro
NM_001142929.2:c.461A>C	NP_001136401.2:p.Gln154Pro
NM_001142933.2:c.569A>C	NP_001136405.2:p.Gln190Pro
NM_001142934.2:c.461A>C	NP_001136406.2:p.Gln154Pro
NM_020549.5:c.815A>C MANE Select	NP_065574.4:p.Gln272Pro
NM_020984.4:c.461A>C	NP_066264.4:p.Gln154Pro
NM_020985.4:c.461A>C	NP_066265.4:p.Gln154Pro
NM_020986.4:c.461A>C	NP_066266.4:p.Gln154Pro