Canonical Allele Identifier: CA2710070483

Linked Data

dbSNP Id: rs1246977722

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.139273935A>C , CM000667.2:g.139273935A>C GRCh38
NC_000005.9:g.138609624A>C , CM000667.1:g.138609624A>C GRCh37
NC_000005.8:g.138637523A>C NCBI36
NG_012846.1:g.4833A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000506147.5:c.-245A>C ENSP00000423521.1:n.-245A>C
ENST00000508744.1:n.466-281T>G (SIL1)
ENST00000509400.5:n.293+6633T>G (SIL1)
ENST00000509990.5:c.-513A>C ENSP00000423533.1:n.-513A>C
ENST00000512107.5:c.-462A>C ENSP00000423695.1:n.-462A>C
NM_001194954.1:c.-513A>C (MATR3) NP_001181883.1:n.-513A>C
NM_001282278.1:c.-520A>C (MATR3) NP_001269207.1:n.-520A>C
NM_199189.2:c.-595A>C (MATR3) NP_954659.1:n.-595A>C
NR_003141.3:n.184A>C (SNHG4)
NR_036536.1:n.184A>C (SNHG4)