Canonical Allele Identifier: CA2677930617

Gene: PSORS1C1

Linked Data

• gnomAD v4: 6-31125687-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31125687G>T , CM000668.2:g.31125687G>T	GRCh38
NC_000006.11:g.31093464G>T , CM000668.1:g.31093464G>T	GRCh37
NC_000006.10:g.31201443G>T	NCBI36
NG_021348.1:g.15857G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-217G>T MANE Select	ENSP00000259881.9:n.-217G>T
ENST00000259881.9:c.-217G>T	ENSP00000259881.9:n.-217G>T
ENST00000479581.5:n.61+10796G>T
ENST00000548049.1:n.128G>T
ENST00000550838.1:n.59-52G>T
ENST00000552747.1:n.53+10796G>T
NM_014068.2:c.-217G>T	NP_054787.2:n.-217G>T
NM_014068.3:c.-217G>T MANE Select	NP_054787.2:n.-217G>T