Canonical Allele Identifier: CA2682211628
Gene: SCRN1 HGNC NCBI

Linked Data

gnomAD v4: 7-29922941-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.29922941T>C , CM000669.2:g.29922941T>C GRCh38
NC_000007.13:g.29962557T>C , CM000669.1:g.29962557T>C GRCh37
NC_000007.12:g.29929082T>C NCBI36
NG_047114.1:g.72349A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000242059.10:c.*1016A>G MANE Select ENSP00000242059.5:n.*1016A>G
ENST00000242059.9:c.*1016A>G ENSP00000242059.5:n.*1016A>G
ENST00000426154.5:c.*1016A>G ENSP00000409068.1:n.*1016A>G
NM_001145513.1:c.*1016A>G NP_001138985.1:n.*1016A>G
NM_001145514.1:c.*1016A>G NP_001138986.1:n.*1016A>G
NM_001145515.1:c.*1016A>G NP_001138987.1:n.*1016A>G
NM_014766.4:c.*1016A>G NP_055581.3:n.*1016A>G
XM_005249918.3:c.*1016A>G XP_005249975.1:n.*1016A>G
XM_011515653.1:c.*1016A>G XP_011513955.1:n.*1016A>G
XM_024447007.1:c.*1016A>G XP_024302775.1:n.*1016A>G
NM_014766.5:c.*1016A>G MANE Select NP_055581.3:n.*1016A>G
NM_001145515.2:c.*1016A>G NP_001138987.1:n.*1016A>G