Canonical Allele Identifier: CA2682211660
Gene: SCRN1 HGNC NCBI

Linked Data

gnomAD v4: 7-29923044-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.29923044C>A , CM000669.2:g.29923044C>A GRCh38
NC_000007.13:g.29962660C>A , CM000669.1:g.29962660C>A GRCh37
NC_000007.12:g.29929185C>A NCBI36
NG_047114.1:g.72246G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242059.10:c.*913G>T MANE Select ENSP00000242059.5:n.*913G>T
ENST00000242059.9:c.*913G>T ENSP00000242059.5:n.*913G>T
ENST00000426154.5:c.*913G>T ENSP00000409068.1:n.*913G>T
NM_001145513.1:c.*913G>T NP_001138985.1:n.*913G>T
NM_001145514.1:c.*913G>T NP_001138986.1:n.*913G>T
NM_001145515.1:c.*913G>T NP_001138987.1:n.*913G>T
NM_014766.4:c.*913G>T NP_055581.3:n.*913G>T
XM_005249918.3:c.*913G>T XP_005249975.1:n.*913G>T
XM_011515653.1:c.*913G>T XP_011513955.1:n.*913G>T
XM_024447007.1:c.*913G>T XP_024302775.1:n.*913G>T
NM_014766.5:c.*913G>T MANE Select NP_055581.3:n.*913G>T
NM_001145515.2:c.*913G>T NP_001138987.1:n.*913G>T