Canonical Allele Identifier: CA364418366

Gene: PKHD1

Linked Data

• dbSNP Id: rs1163632619
• gnomAD v2: 6-51491809-G-A
• gnomAD v3: 6-51627011-G-A
• gnomAD v4: 6-51627011-G-A
• MyVariant Identifiers: chr6:g.51491809G>A (hg19) ; chr6:g.51627011G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627011G>A , CM000668.2:g.51627011G>A	GRCh38
NC_000006.11:g.51491809G>A , CM000668.1:g.51491809G>A	GRCh37
NC_000006.10:g.51599768G>A	NCBI36
NG_008753.1:g.465615C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.11771C>T MANE Select	ENSP00000360158.3:p.Thr3924Ile
ENST00000371117.7:c.11771C>T	ENSP00000360158.3:p.Thr3924Ile
NM_138694.3:c.11771C>T	NP_619639.3:p.Thr3924Ile
XM_011514679.1:c.11771C>T	XP_011512981.1:p.Thr3924Ile
XM_011514680.1:c.11771C>T	XP_011512982.1:p.Thr3924Ile
XM_011514681.1:c.11642C>T	XP_011512983.1:p.Thr3881Ile
XM_011514682.1:c.11633C>T	XP_011512984.1:p.Thr3878Ile
XM_011514683.1:c.11129C>T	XP_011512985.1:p.Thr3710Ile
XM_011514684.1:c.11060C>T	XP_011512986.1:p.Thr3687Ile
XM_011514690.1:c.5846C>T	XP_011512992.1:p.Thr1949Ile
XM_011514691.1:c.5846C>T	XP_011512993.1:p.Thr1949Ile
XM_011514680.3:c.11771C>T	XP_011512982.1:p.Thr3924Ile
XM_011514682.3:c.11633C>T	XP_011512984.1:p.Thr3878Ile
XM_011514683.3:c.11129C>T	XP_011512985.1:p.Thr3710Ile
XM_011514684.3:c.11060C>T	XP_011512986.1:p.Thr3687Ile
XM_011514690.3:c.5846C>T	XP_011512992.1:p.Thr1949Ile
XM_011514691.3:c.5846C>T	XP_011512993.1:p.Thr1949Ile
XM_017010944.2:c.11771C>T	XP_016866433.1:p.Thr3924Ile
XM_017010945.2:c.11696C>T	XP_016866434.1:p.Thr3899Ile
XM_017010946.2:c.11576C>T	XP_016866435.1:p.Thr3859Ile
XM_017010947.2:c.11507C>T	XP_016866436.1:p.Thr3836Ile
XM_017010948.2:c.11060C>T	XP_016866437.1:p.Thr3687Ile
XM_017010949.2:c.9911C>T	XP_016866438.1:p.Thr3304Ile
NM_138694.4:c.11771C>T MANE Select	NP_619639.3:p.Thr3924Ile