Canonical Allele Identifier: CA376747696

Gene: CHAT

Linked Data

• MyVariant Identifiers: chr10:g.50863219A>C (hg19) ; chr10:g.49655173A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49655173A>C , CM000672.2:g.49655173A>C	GRCh38
NC_000010.10:g.50863219A>C , CM000672.1:g.50863219A>C	GRCh37
NC_000010.9:g.50533225A>C	NCBI36
NG_011797.1:g.51079A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000337653.7:c.1713A>C MANE Select	ENSP00000337103.2:p.Arg571Ser
ENST00000638282.1:c.*550A>C	ENSP00000492646.1:n.*550A>C
ENST00000638683.1:n.350A>C
ENST00000640822.1:c.576A>C	ENSP00000491328.1:p.Arg192Ser
ENST00000337653.6:c.1713A>C	ENSP00000337103.2:p.Arg571Ser
ENST00000339797.5:c.1359A>C	ENSP00000343486.1:p.Arg453Ser
ENST00000351556.7:c.1359A>C	ENSP00000345878.3:p.Arg453Ser
ENST00000395559.6:c.1359A>C	ENSP00000378926.2:p.Arg453Ser
ENST00000395562.2:c.1467A>C	ENSP00000378929.2:p.Arg489Ser
ENST00000466590.6:c.*1444A>C	ENSP00000473443.1:n.*1444A>C
NM_001142929.1:c.1359A>C	NP_001136401.1:p.Arg453Ser
NM_001142933.1:c.1467A>C	NP_001136405.1:p.Arg489Ser
NM_001142934.1:c.1359A>C	NP_001136406.1:p.Arg453Ser
NM_020549.4:c.1713A>C	NP_065574.3:p.Arg571Ser
NM_020984.3:c.1359A>C	NP_066264.3:p.Arg453Ser
NM_020985.3:c.1359A>C	NP_066265.3:p.Arg453Ser
NM_020986.3:c.1359A>C	NP_066266.3:p.Arg453Ser
NM_001142929.2:c.1359A>C	NP_001136401.2:p.Arg453Ser
NM_001142933.2:c.1467A>C	NP_001136405.2:p.Arg489Ser
NM_001142934.2:c.1359A>C	NP_001136406.2:p.Arg453Ser
NM_020549.5:c.1713A>C MANE Select	NP_065574.4:p.Arg571Ser
NM_020984.4:c.1359A>C	NP_066264.4:p.Arg453Ser
NM_020985.4:c.1359A>C	NP_066265.4:p.Arg453Ser
NM_020986.4:c.1359A>C	NP_066266.4:p.Arg453Ser