Canonical Allele Identifier: CA2677930887

Gene: PSORS1C1

Linked Data

• gnomAD v4: 6-31125842-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31125842G>T , CM000668.2:g.31125842G>T	GRCh38
NC_000006.11:g.31093619G>T , CM000668.1:g.31093619G>T	GRCh37
NC_000006.10:g.31201598G>T	NCBI36
NG_021348.1:g.16012G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-65+3G>T MANE Select	ENSP00000259881.9:n.-65+3G>T
ENST00000259881.9:c.-65+3G>T	ENSP00000259881.9:n.-65+3G>T
ENST00000479581.5:n.61+10951G>T
ENST00000548049.1:n.280+3G>T
ENST00000550838.1:n.159+3G>T
ENST00000552747.1:n.53+10951G>T
NM_014068.2:c.-65+3G>T	NP_054787.2:n.-65+3G>T
NM_014068.3:c.-65+3G>T MANE Select	NP_054787.2:n.-65+3G>T