Canonical Allele Identifier: CA156019455

Gene: SCRN1

Linked Data

• dbSNP Id: rs545559338
• gnomAD v4: 7-29922626-A-G
• MyVariant Identifiers: chr7:g.29962242A>G (hg19) ; chr7:g.29922626A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.29922626A>G , CM000669.2:g.29922626A>G	GRCh38
NC_000007.13:g.29962242A>G , CM000669.1:g.29962242A>G	GRCh37
NC_000007.12:g.29928767A>G	NCBI36
NG_047114.1:g.72664T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242059.10:c.*1331T>C MANE Select	ENSP00000242059.5:n.*1331T>C
ENST00000242059.9:c.*1331T>C	ENSP00000242059.5:n.*1331T>C
ENST00000426154.5:c.*1331T>C	ENSP00000409068.1:n.*1331T>C
NM_001145513.1:c.*1331T>C	NP_001138985.1:n.*1331T>C
NM_001145514.1:c.*1331T>C	NP_001138986.1:n.*1331T>C
NM_001145515.1:c.*1331T>C	NP_001138987.1:n.*1331T>C
NM_014766.4:c.*1331T>C	NP_055581.3:n.*1331T>C
XM_005249918.3:c.*1331T>C	XP_005249975.1:n.*1331T>C
XM_011515653.1:c.*1331T>C	XP_011513955.1:n.*1331T>C
XM_024447007.1:c.*1331T>C	XP_024302775.1:n.*1331T>C
NM_014766.5:c.*1331T>C MANE Select	NP_055581.3:n.*1331T>C
NM_001145515.2:c.*1331T>C	NP_001138987.1:n.*1331T>C