Canonical Allele Identifier: CA563455252
Gene: SIL1 HGNC NCBI
MATR3 HGNC NCBI
SNHG4 HGNC NCBI

Linked Data

dbSNP Id: rs1189021225
gnomAD v2: 5-138609636-C-T
gnomAD v3: 5-139273947-C-T
gnomAD v4: 5-139273947-C-T
MyVariant Identifiers: chr5:g.138609636C>T (hg19) chr5:g.139273947C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139273947C>T , CM000667.2:g.139273947C>T GRCh38
NC_000005.9:g.138609636C>T , CM000667.1:g.138609636C>T GRCh37
NC_000005.8:g.138637535C>T NCBI36
NG_012846.1:g.4845C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000506147.5:c.-233C>T ENSP00000423521.1:n.-233C>T
ENST00000508744.1:n.466-293G>A (SIL1)
ENST00000509400.5:n.293+6621G>A (SIL1)
ENST00000509990.5:c.-501C>T ENSP00000423533.1:n.-501C>T
ENST00000512107.5:c.-450C>T ENSP00000423695.1:n.-450C>T
NM_001194954.1:c.-501C>T (MATR3) NP_001181883.1:n.-501C>T
NM_001282278.1:c.-508C>T (MATR3) NP_001269207.1:n.-508C>T
NM_199189.2:c.-583C>T (MATR3) NP_954659.1:n.-583C>T
NR_003141.3:n.196C>T (SNHG4)
NR_036536.1:n.196C>T (SNHG4)
Search 100 bp 5'
Search 100 bp 3'