Canonical Allele Identifier: CA563455232
Gene: SIL1 HGNC NCBI
MATR3 HGNC NCBI
SNHG4 HGNC NCBI

Linked Data

dbSNP Id: rs1254800919
gnomAD v2: 5-138609494-T-A
gnomAD v4: 5-139273805-T-A
MyVariant Identifiers: chr5:g.138609494T>A (hg19) chr5:g.139273805T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139273805T>A , CM000667.2:g.139273805T>A GRCh38
NC_000005.9:g.138609494T>A , CM000667.1:g.138609494T>A GRCh37
NC_000005.8:g.138637393T>A NCBI36
NG_012846.1:g.4703T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000506147.5:c.-375T>A ENSP00000423521.1:n.-375T>A
ENST00000508744.1:n.466-151A>T (SIL1)
ENST00000509400.5:n.293+6763A>T (SIL1)
ENST00000509990.5:c.-643T>A ENSP00000423533.1:n.-643T>A
NM_001194954.1:c.-643T>A (MATR3) NP_001181883.1:n.-643T>A
NM_001282278.1:c.-650T>A (MATR3) NP_001269207.1:n.-650T>A
NM_199189.2:c.-725T>A (MATR3) NP_954659.1:n.-725T>A
NR_003141.3:n.54T>A (SNHG4)
NR_036536.1:n.54T>A (SNHG4)
Search 100 bp 5'
Search 100 bp 3'