Canonical Allele Identifier: CA2693585695
Gene: SYN1 HGNC NCBI

Linked Data

gnomAD v4: X-47576124-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47576124C>T , CM000685.2:g.47576124C>T GRCh38
NC_000023.10:g.47435523C>T , CM000685.1:g.47435523C>T GRCh37
NC_000023.9:g.47320467C>T NCBI36
NG_008437.1:g.48734G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000295987.13:c.1158+7G>A MANE Select ENSP00000295987.7:n.1158+7G>A
ENST00000340666.5:c.1158+7G>A ENSP00000343206.4:n.1158+7G>A
ENST00000295987.11:c.1158+7G>A ENSP00000295987.7:n.1158+7G>A
ENST00000340666.4:c.1158+7G>A ENSP00000343206.4:n.1158+7G>A
NM_006950.3:c.1158+7G>A MANE Select NP_008881.2:n.1158+7G>A
NM_133499.2:c.1158+7G>A NP_598006.1:n.1158+7G>A
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