Canonical Allele Identifier: CA2682211540
Gene: SCRN1 HGNC NCBI

Linked Data

gnomAD v4: 7-29922778-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.29922778T>A , CM000669.2:g.29922778T>A GRCh38
NC_000007.13:g.29962394T>A , CM000669.1:g.29962394T>A GRCh37
NC_000007.12:g.29928919T>A NCBI36
NG_047114.1:g.72512A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242059.10:c.*1179A>T MANE Select ENSP00000242059.5:n.*1179A>T
ENST00000242059.9:c.*1179A>T ENSP00000242059.5:n.*1179A>T
ENST00000426154.5:c.*1179A>T ENSP00000409068.1:n.*1179A>T
NM_001145513.1:c.*1179A>T NP_001138985.1:n.*1179A>T
NM_001145514.1:c.*1179A>T NP_001138986.1:n.*1179A>T
NM_001145515.1:c.*1179A>T NP_001138987.1:n.*1179A>T
NM_014766.4:c.*1179A>T NP_055581.3:n.*1179A>T
XM_005249918.3:c.*1179A>T XP_005249975.1:n.*1179A>T
XM_011515653.1:c.*1179A>T XP_011513955.1:n.*1179A>T
XM_024447007.1:c.*1179A>T XP_024302775.1:n.*1179A>T
NM_014766.5:c.*1179A>T MANE Select NP_055581.3:n.*1179A>T
NM_001145515.2:c.*1179A>T NP_001138987.1:n.*1179A>T