Canonical Allele Identifier: CA15228558
Gene: CSRNP1 HGNC NCBI

Linked Data

dbSNP Id: rs1274963
gnomAD v2: 3-39191029-A-G
gnomAD v3: 3-39149538-A-G
gnomAD v4: 3-39149538-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.39149538A>G , CM000665.2:g.39149538A>G GRCh38
NC_000003.11:g.39191029A>G , CM000665.1:g.39191029A>G GRCh37
NC_000003.10:g.39166033A>G NCBI36
NG_047179.1:g.10060T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000273153.10:c.-40-2816T>C MANE Select ENSP00000273153.5:n.-40-2816T>C
ENST00000273153.9:c.-40-2816T>C ENSP00000273153.5:n.-40-2816T>C
ENST00000514182.1:c.-40-2816T>C ENSP00000422532.1:n.-40-2816T>C
NM_033027.3:c.-40-2816T>C NP_149016.2:n.-40-2816T>C
XM_005265403.2:c.-40-2816T>C XP_005265460.1:n.-40-2816T>C
XM_011534019.1:c.-41+1357T>C XP_011532321.1:n.-41+1357T>C
NM_001320560.1:c.-40-2816T>C NP_001307489.1:n.-40-2816T>C
NM_033027.4:c.-40-2816T>C MANE Select NP_149016.2:n.-40-2816T>C
NM_001320560.2:c.-40-2816T>C NP_001307489.1:n.-40-2816T>C