Canonical Allele Identifier: CA2675507848

Gene: SIL1 MATR3 SNHG4

Linked Data

• gnomAD v4: 5-139273901-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.139273901G>T , CM000667.2:g.139273901G>T	GRCh38
NC_000005.9:g.138609590G>T , CM000667.1:g.138609590G>T	GRCh37
NC_000005.8:g.138637489G>T	NCBI36
NG_012846.1:g.4799G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000506147.5:c.-279G>T	ENSP00000423521.1:n.-279G>T
ENST00000508744.1:n.466-247C>A (SIL1)
ENST00000509400.5:n.293+6667C>A (SIL1)
ENST00000509990.5:c.-547G>T	ENSP00000423533.1:n.-547G>T
ENST00000512107.5:c.-496G>T	ENSP00000423695.1:n.-496G>T
NM_001194954.1:c.-547G>T (MATR3)	NP_001181883.1:n.-547G>T
NM_001282278.1:c.-554G>T (MATR3)	NP_001269207.1:n.-554G>T
NM_199189.2:c.-629G>T (MATR3)	NP_954659.1:n.-629G>T
NR_003141.3:n.150G>T (SNHG4)
NR_036536.1:n.150G>T (SNHG4)