Canonical Allele Identifier: CA837423749
Gene: SCRN1 HGNC NCBI

Linked Data

dbSNP Id: rs1237260414
gnomAD v3: 7-29923149-G-A
gnomAD v4: 7-29923149-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.29923149G>A , CM000669.2:g.29923149G>A GRCh38
NC_000007.13:g.29962765G>A , CM000669.1:g.29962765G>A GRCh37
NC_000007.12:g.29929290G>A NCBI36
NG_047114.1:g.72141C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242059.10:c.*808C>T MANE Select ENSP00000242059.5:n.*808C>T
ENST00000242059.9:c.*808C>T ENSP00000242059.5:n.*808C>T
ENST00000426154.5:c.*808C>T ENSP00000409068.1:n.*808C>T
NM_001145513.1:c.*808C>T NP_001138985.1:n.*808C>T
NM_001145514.1:c.*808C>T NP_001138986.1:n.*808C>T
NM_001145515.1:c.*808C>T NP_001138987.1:n.*808C>T
NM_014766.4:c.*808C>T NP_055581.3:n.*808C>T
XM_005249918.3:c.*808C>T XP_005249975.1:n.*808C>T
XM_011515653.1:c.*808C>T XP_011513955.1:n.*808C>T
XM_024447007.1:c.*808C>T XP_024302775.1:n.*808C>T
NM_014766.5:c.*808C>T MANE Select NP_055581.3:n.*808C>T
NM_001145515.2:c.*808C>T NP_001138987.1:n.*808C>T