Canonical Allele Identifier: CA364429797

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51658973-G-A
• MyVariant Identifiers: chr6:g.51523771G>A (hg19) ; chr6:g.51658973G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51658973G>A , CM000668.2:g.51658973G>A	GRCh38
NC_000006.11:g.51523771G>A , CM000668.1:g.51523771G>A	GRCh37
NC_000006.10:g.51631730G>A	NCBI36
NG_008753.1:g.433653C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11153C>T MANE Select	ENSP00000360158.3:p.Ser3718Leu
ENST00000371117.7:c.11153C>T	ENSP00000360158.3:p.Ser3718Leu
NM_138694.3:c.11153C>T	NP_619639.3:p.Ser3718Leu
XM_011514679.1:c.11153C>T	XP_011512981.1:p.Ser3718Leu
XM_011514680.1:c.11153C>T	XP_011512982.1:p.Ser3718Leu
XM_011514681.1:c.11024C>T	XP_011512983.1:p.Ser3675Leu
XM_011514682.1:c.11015C>T	XP_011512984.1:p.Ser3672Leu
XM_011514683.1:c.10511C>T	XP_011512985.1:p.Ser3504Leu
XM_011514684.1:c.10442C>T	XP_011512986.1:p.Ser3481Leu
XM_011514687.1:c.10157-9753C>T	XP_011512989.1:n.10157-9753C>T
XM_011514690.1:c.5228C>T	XP_011512992.1:p.Ser1743Leu
XM_011514691.1:c.5228C>T	XP_011512993.1:p.Ser1743Leu
XR_926870.1:n.535+6600G>A
XR_926871.1:n.403+6600G>A
XR_926872.1:n.535+6600G>A
XM_011514680.3:c.11153C>T	XP_011512982.1:p.Ser3718Leu
XM_011514682.3:c.11015C>T	XP_011512984.1:p.Ser3672Leu
XM_011514683.3:c.10511C>T	XP_011512985.1:p.Ser3504Leu
XM_011514684.3:c.10442C>T	XP_011512986.1:p.Ser3481Leu
XM_011514690.3:c.5228C>T	XP_011512992.1:p.Ser1743Leu
XM_011514691.3:c.5228C>T	XP_011512993.1:p.Ser1743Leu
XM_017010944.2:c.11153C>T	XP_016866433.1:p.Ser3718Leu
XM_017010945.2:c.11078C>T	XP_016866434.1:p.Ser3693Leu
XM_017010946.2:c.10958C>T	XP_016866435.1:p.Ser3653Leu
XM_017010947.2:c.10889C>T	XP_016866436.1:p.Ser3630Leu
XM_017010948.2:c.10442C>T	XP_016866437.1:p.Ser3481Leu
XM_017010949.2:c.9293C>T	XP_016866438.1:p.Ser3098Leu
XR_001743469.1:n.11429C>T
XR_001744157.1:n.3145+6600G>A
XR_926870.2:n.3145+6600G>A
XR_926871.2:n.3013+6600G>A
XR_926872.2:n.3145+6600G>A
NM_138694.4:c.11153C>T MANE Select	NP_619639.3:p.Ser3718Leu