Canonical Allele Identifier: CA2675507826
Gene: SIL1 HGNC NCBI
MATR3 HGNC NCBI
SNHG4 HGNC NCBI

Linked Data

gnomAD v4: 5-139273821-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139273821G>A , CM000667.2:g.139273821G>A GRCh38
NC_000005.9:g.138609510G>A , CM000667.1:g.138609510G>A GRCh37
NC_000005.8:g.138637409G>A NCBI36
NG_012846.1:g.4719G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000506147.5:c.-359G>A ENSP00000423521.1:n.-359G>A
ENST00000508744.1:n.466-167C>T (SIL1)
ENST00000509400.5:n.293+6747C>T (SIL1)
ENST00000509990.5:c.-627G>A ENSP00000423533.1:n.-627G>A
NM_001194954.1:c.-627G>A (MATR3) NP_001181883.1:n.-627G>A
NM_001282278.1:c.-634G>A (MATR3) NP_001269207.1:n.-634G>A
NM_199189.2:c.-709G>A (MATR3) NP_954659.1:n.-709G>A
NR_003141.3:n.70G>A (SNHG4)
NR_036536.1:n.70G>A (SNHG4)
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