Canonical Allele Identifier: CA1327644304

Linked Data

dbSNP Id: rs1694747958

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.216033759C>T , CM000664.2:g.216033759C>T GRCh38
NC_000002.11:g.216898482C>T , CM000664.1:g.216898482C>T GRCh37
NC_000002.10:g.216606727C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000424992.5:c.-68+203G>A (MREG) ENSP00000413302.1:n.-68+203G>A
ENST00000439791.5:c.-144G>A (MREG) ENSP00000411076.1:n.-144G>A
ENST00000442122.5:c.*440+5432G>A (PECR) ENSP00000395512.1:n.*440+5432G>A
XR_001738847.2:n.1056-907G>A (PECR)
NM_001372189.1:c.-68+203G>A (MREG) NP_001359118.1:n.-68+203G>A
NM_001372190.1:c.-144G>A (MREG) NP_001359119.1:n.-144G>A