Canonical Allele Identifier: CA2675507822
Gene: SIL1 HGNC NCBI
MATR3 HGNC NCBI
SNHG4 HGNC NCBI

Linked Data

gnomAD v4: 5-139273805-T-C
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000506147.5:c.-375T>C ENSP00000423521.1:n.-375T>C
ENST00000508744.1:n.466-151A>G (SIL1)
ENST00000509400.5:n.293+6763A>G (SIL1)
ENST00000509990.5:c.-643T>C ENSP00000423533.1:n.-643T>C
NM_001194954.1:c.-643T>C (MATR3) NP_001181883.1:n.-643T>C
NM_001282278.1:c.-650T>C (MATR3) NP_001269207.1:n.-650T>C
NM_199189.2:c.-725T>C (MATR3) NP_954659.1:n.-725T>C
NR_003141.3:n.54T>C (SNHG4)
NR_036536.1:n.54T>C (SNHG4)
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