Canonical Allele Identifier: CA15993881
Gene: SYNGR1 HGNC NCBI

Linked Data

dbSNP Id: rs137699
gnomAD v2: 22-39748854-A-G
gnomAD v3: 22-39352849-A-G
gnomAD v4: 22-39352849-A-G
MyVariant Identifiers: chr22:g.39748854A>G (hg19) chr22:g.39352849A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.39352849A>G , CM000684.2:g.39352849A>G GRCh38
NC_000022.10:g.39748854A>G , CM000684.1:g.39748854A>G GRCh37
NC_000022.9:g.38078800A>G NCBI36
NG_047102.1:g.7901A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000328933.10:c.99+2740A>G MANE Select ENSP00000332287.5:n.99+2740A>G
ENST00000216155.11:c.99+2740A>G ENSP00000216155.7:n.99+2740A>G
ENST00000318801.8:c.99+2740A>G ENSP00000318845.4:n.99+2740A>G
ENST00000328933.9:c.99+2740A>G ENSP00000332287.5:n.99+2740A>G
ENST00000406293.7:c.99+2740A>G ENSP00000385447.3:n.99+2740A>G
ENST00000415332.1:c.99+2740A>G ENSP00000412442.1:n.99+2740A>G
ENST00000489206.1:n.104+2740A>G
NM_004711.4:c.99+2740A>G NP_004702.2:n.99+2740A>G
NM_145731.3:c.99+2740A>G NP_663783.1:n.99+2740A>G
NM_004711.5:c.99+2740A>G MANE Select NP_004702.2:n.99+2740A>G
NM_145731.4:c.99+2740A>G NP_663783.1:n.99+2740A>G
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