Canonical Allele Identifier: CA2682211526
Gene: SCRN1 HGNC NCBI

Linked Data

gnomAD v4: 7-29922756-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.29922756A>G , CM000669.2:g.29922756A>G GRCh38
NC_000007.13:g.29962372A>G , CM000669.1:g.29962372A>G GRCh37
NC_000007.12:g.29928897A>G NCBI36
NG_047114.1:g.72534T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000242059.10:c.*1201T>C MANE Select ENSP00000242059.5:n.*1201T>C
ENST00000242059.9:c.*1201T>C ENSP00000242059.5:n.*1201T>C
ENST00000426154.5:c.*1201T>C ENSP00000409068.1:n.*1201T>C
NM_001145513.1:c.*1201T>C NP_001138985.1:n.*1201T>C
NM_001145514.1:c.*1201T>C NP_001138986.1:n.*1201T>C
NM_001145515.1:c.*1201T>C NP_001138987.1:n.*1201T>C
NM_014766.4:c.*1201T>C NP_055581.3:n.*1201T>C
XM_005249918.3:c.*1201T>C XP_005249975.1:n.*1201T>C
XM_011515653.1:c.*1201T>C XP_011513955.1:n.*1201T>C
XM_024447007.1:c.*1201T>C XP_024302775.1:n.*1201T>C
NM_014766.5:c.*1201T>C MANE Select NP_055581.3:n.*1201T>C
NM_001145515.2:c.*1201T>C NP_001138987.1:n.*1201T>C