Canonical Allele Identifier: CA837423703
Gene: SCRN1 HGNC NCBI

Linked Data

dbSNP Id: rs1284547627
gnomAD v3: 7-29923043-T-C
gnomAD v4: 7-29923043-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.29923043T>C , CM000669.2:g.29923043T>C GRCh38
NC_000007.13:g.29962659T>C , CM000669.1:g.29962659T>C GRCh37
NC_000007.12:g.29929184T>C NCBI36
NG_047114.1:g.72247A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000242059.10:c.*914A>G MANE Select ENSP00000242059.5:n.*914A>G
ENST00000242059.9:c.*914A>G ENSP00000242059.5:n.*914A>G
ENST00000426154.5:c.*914A>G ENSP00000409068.1:n.*914A>G
NM_001145513.1:c.*914A>G NP_001138985.1:n.*914A>G
NM_001145514.1:c.*914A>G NP_001138986.1:n.*914A>G
NM_001145515.1:c.*914A>G NP_001138987.1:n.*914A>G
NM_014766.4:c.*914A>G NP_055581.3:n.*914A>G
XM_005249918.3:c.*914A>G XP_005249975.1:n.*914A>G
XM_011515653.1:c.*914A>G XP_011513955.1:n.*914A>G
XM_024447007.1:c.*914A>G XP_024302775.1:n.*914A>G
NM_014766.5:c.*914A>G MANE Select NP_055581.3:n.*914A>G
NM_001145515.2:c.*914A>G NP_001138987.1:n.*914A>G