Canonical Allele Identifier: CA156019749
Gene: SCRN1 HGNC NCBI

Linked Data

dbSNP Id: rs1012987805
gnomAD v3: 7-29923084-T-G
gnomAD v4: 7-29923084-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.29923084T>G , CM000669.2:g.29923084T>G GRCh38
NC_000007.13:g.29962700T>G , CM000669.1:g.29962700T>G GRCh37
NC_000007.12:g.29929225T>G NCBI36
NG_047114.1:g.72206A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242059.10:c.*873A>C MANE Select ENSP00000242059.5:n.*873A>C
ENST00000242059.9:c.*873A>C ENSP00000242059.5:n.*873A>C
ENST00000426154.5:c.*873A>C ENSP00000409068.1:n.*873A>C
NM_001145513.1:c.*873A>C NP_001138985.1:n.*873A>C
NM_001145514.1:c.*873A>C NP_001138986.1:n.*873A>C
NM_001145515.1:c.*873A>C NP_001138987.1:n.*873A>C
NM_014766.4:c.*873A>C NP_055581.3:n.*873A>C
XM_005249918.3:c.*873A>C XP_005249975.1:n.*873A>C
XM_011515653.1:c.*873A>C XP_011513955.1:n.*873A>C
XM_024447007.1:c.*873A>C XP_024302775.1:n.*873A>C
NM_014766.5:c.*873A>C MANE Select NP_055581.3:n.*873A>C
NM_001145515.2:c.*873A>C NP_001138987.1:n.*873A>C