Canonical Allele Identifier: CA767229430
Gene: SH3YL1 HGNC NCBI

Linked Data

dbSNP Id: rs1349118860
gnomAD v4: 2-263313-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.263313C>A , CM000664.2:g.263313C>A GRCh38
NC_000002.11:g.263313C>A , CM000664.1:g.263313C>A GRCh37
NC_000002.10:g.253313C>A NCBI36
NG_012035.1:g.3445C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356150.10:c.1+671G>T MANE Select ENSP00000348471.5:n.1+671G>T
ENST00000356150.9:c.1+671G>T ENSP00000348471.5:n.1+671G>T
ENST00000402632.5:c.-155-527G>T ENSP00000384910.1:n.-155-527G>T
ENST00000403658.5:c.-422+1469G>T ENSP00000383928.1:n.-422+1469G>T
ENST00000403712.6:c.1+671G>T ENSP00000384276.1:n.1+671G>T
ENST00000405430.5:c.-222G>T ENSP00000384269.1:n.-222G>T
ENST00000415368.5:c.-258G>T ENSP00000410235.1:n.-258G>T
ENST00000454318.1:c.-362+1469G>T ENSP00000415723.1:n.-362+1469G>T
ENST00000462719.1:n.106-2593G>T
ENST00000463865.5:n.309+771G>T
ENST00000465733.5:n.89G>T
ENST00000468321.5:n.42-527G>T
ENST00000471948.5:n.671G>T
ENST00000472861.1:n.89G>T
ENST00000475027.5:n.29+1469G>T
ENST00000477707.5:n.288G>T
ENST00000488044.5:n.85+1469G>T
ENST00000488979.6:n.27+1229G>T
ENST00000626873.2:c.-556+831G>T ENSP00000485824.1:n.-556+831G>T
NM_001159597.2:c.1+671G>T NP_001153069.1:n.1+671G>T
NM_001282682.1:c.-422+1469G>T NP_001269611.1:n.-422+1469G>T
NM_015677.3:c.1+671G>T NP_056492.2:n.1+671G>T
NR_104223.1:n.42-527G>T
NR_104224.1:n.86-527G>T
NR_104225.1:n.309+771G>T
NM_015677.4:c.1+671G>T MANE Select NP_056492.2:n.1+671G>T
NR_104224.2:n.44-527G>T
NM_001159597.3:c.1+671G>T NP_001153069.1:n.1+671G>T
NM_001282682.2:c.-422+1469G>T NP_001269611.1:n.-422+1469G>T
NR_104223.2:n.42-527G>T
NR_104224.3:n.44-527G>T