Canonical Allele Identifier: CA364434509

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524410C>A (hg19) ; chr6:g.51659612C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659612C>A , CM000668.2:g.51659612C>A	GRCh38
NC_000006.11:g.51524410C>A , CM000668.1:g.51524410C>A	GRCh37
NC_000006.10:g.51632369C>A	NCBI36
NG_008753.1:g.433014G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10514G>T MANE Select	ENSP00000360158.3:p.Ser3505Ile
ENST00000371117.7:c.10514G>T	ENSP00000360158.3:p.Ser3505Ile
NM_138694.3:c.10514G>T	NP_619639.3:p.Ser3505Ile
XM_011514679.1:c.10514G>T	XP_011512981.1:p.Ser3505Ile
XM_011514680.1:c.10514G>T	XP_011512982.1:p.Ser3505Ile
XM_011514681.1:c.10385G>T	XP_011512983.1:p.Ser3462Ile
XM_011514682.1:c.10376G>T	XP_011512984.1:p.Ser3459Ile
XM_011514683.1:c.9872G>T	XP_011512985.1:p.Ser3291Ile
XM_011514684.1:c.9803G>T	XP_011512986.1:p.Ser3268Ile
XM_011514687.1:c.10157-10392G>T	XP_011512989.1:n.10157-10392G>T
XM_011514690.1:c.4589G>T	XP_011512992.1:p.Ser1530Ile
XM_011514691.1:c.4589G>T	XP_011512993.1:p.Ser1530Ile
XR_926870.1:n.535+7239C>A
XR_926871.1:n.403+7239C>A
XR_926872.1:n.535+7239C>A
XM_011514680.3:c.10514G>T	XP_011512982.1:p.Ser3505Ile
XM_011514682.3:c.10376G>T	XP_011512984.1:p.Ser3459Ile
XM_011514683.3:c.9872G>T	XP_011512985.1:p.Ser3291Ile
XM_011514684.3:c.9803G>T	XP_011512986.1:p.Ser3268Ile
XM_011514690.3:c.4589G>T	XP_011512992.1:p.Ser1530Ile
XM_011514691.3:c.4589G>T	XP_011512993.1:p.Ser1530Ile
XM_017010944.2:c.10514G>T	XP_016866433.1:p.Ser3505Ile
XM_017010945.2:c.10439G>T	XP_016866434.1:p.Ser3480Ile
XM_017010946.2:c.10319G>T	XP_016866435.1:p.Ser3440Ile
XM_017010947.2:c.10250G>T	XP_016866436.1:p.Ser3417Ile
XM_017010948.2:c.9803G>T	XP_016866437.1:p.Ser3268Ile
XM_017010949.2:c.8654G>T	XP_016866438.1:p.Ser2885Ile
XR_001743469.1:n.10790G>T
XR_001744157.1:n.3145+7239C>A
XR_926870.2:n.3145+7239C>A
XR_926871.2:n.3013+7239C>A
XR_926872.2:n.3145+7239C>A
NM_138694.4:c.10514G>T MANE Select	NP_619639.3:p.Ser3505Ile