Canonical Allele Identifier: CA2677932733

Gene: PSORS1C1

Linked Data

• dbSNP Id: rs2150980359
• gnomAD v4: 6-31139413-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31139413A>T , CM000668.2:g.31139413A>T	GRCh38
NC_000006.11:g.31107190A>T , CM000668.1:g.31107190A>T	GRCh37
NC_000006.10:g.31215169A>T	NCBI36
NG_021348.1:g.29583A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.168-228A>T MANE Select	ENSP00000259881.9:n.168-228A>T
ENST00000259881.9:c.168-228A>T	ENSP00000259881.9:n.168-228A>T
ENST00000479581.5:n.62-228A>T
ENST00000481450.2:c.-22-228A>T	ENSP00000447158.1:n.-22-228A>T
ENST00000547221.1:c.24-228A>T	ENSP00000449471.1:n.24-228A>T
ENST00000552747.1:n.1108A>T
NM_014068.2:c.168-228A>T	NP_054787.2:n.168-228A>T
NM_014068.3:c.168-228A>T MANE Select	NP_054787.2:n.168-228A>T