Canonical Allele Identifier: CA1908792562

Gene: SLC18A3 CHAT

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.49610967_49610968delinsAG , CM000672.2:g.49610967_49610968delinsAG	GRCh38
NC_000010.10:g.50819013_50819014delinsAG , CM000672.1:g.50819013_50819014delinsAG	GRCh37
NC_000010.9:g.50489019_50489020delinsAG	NCBI36
NG_011797.1:g.6873_6874delinsAG
NG_053144.1:g.5667_5668delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374115.5:c.227_228delinsAG (SLC18A3) MANE Select	ENSP00000363229.3:p.Glu76=
ENST00000339797.5:c.-69+1768_-69+1769delinsAG (CHAT)	ENSP00000343486.1:n.-69+1768_-69+1769delinsAG
ENST00000374115.4:c.227_228delinsAG (SLC18A3)	ENSP00000363229.3:p.Glu76=
NM_003055.2:c.227_228delinsAG (SLC18A3)	NP_003046.2:p.Glu76=
NM_020984.3:c.-69+1768_-69+1769delinsAG (CHAT)	NP_066264.3:n.-69+1768_-69+1769delinsAG
NM_003055.3:c.227_228delinsAG (SLC18A3) MANE Select	NP_003046.2:p.Glu76=
NM_020984.4:c.-69+1768_-69+1769delinsAG (CHAT)	NP_066264.4:n.-69+1768_-69+1769delinsAG