Canonical Allele Identifier: CA2677930532

Gene: PSORS1C1

Linked Data

• gnomAD v4: 6-31125627-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31125627G>T , CM000668.2:g.31125627G>T	GRCh38
NC_000006.11:g.31093404G>T , CM000668.1:g.31093404G>T	GRCh37
NC_000006.10:g.31201383G>T	NCBI36
NG_021348.1:g.15797G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000259881.10:c.-228-49G>T MANE Select	ENSP00000259881.9:n.-228-49G>T
ENST00000259881.9:c.-228-49G>T	ENSP00000259881.9:n.-228-49G>T
ENST00000479581.5:n.61+10736G>T
ENST00000548049.1:n.120-52G>T
ENST00000550838.1:n.59-112G>T
ENST00000552747.1:n.53+10736G>T
NM_014068.2:c.-228-49G>T	NP_054787.2:n.-228-49G>T
NM_014068.3:c.-228-49G>T MANE Select	NP_054787.2:n.-228-49G>T