Canonical Allele Identifier: CA364430514

Gene: PKHD1

Linked Data

• dbSNP Id: rs1581889688
• MyVariant Identifiers: chr6:g.51523903C>T (hg19) ; chr6:g.51659105C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659105C>T , CM000668.2:g.51659105C>T	GRCh38
NC_000006.11:g.51523903C>T , CM000668.1:g.51523903C>T	GRCh37
NC_000006.10:g.51631862C>T	NCBI36
NG_008753.1:g.433521G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11021G>A MANE Select	ENSP00000360158.3:p.Ser3674Asn
ENST00000371117.7:c.11021G>A	ENSP00000360158.3:p.Ser3674Asn
NM_138694.3:c.11021G>A	NP_619639.3:p.Ser3674Asn
XM_011514679.1:c.11021G>A	XP_011512981.1:p.Ser3674Asn
XM_011514680.1:c.11021G>A	XP_011512982.1:p.Ser3674Asn
XM_011514681.1:c.10892G>A	XP_011512983.1:p.Ser3631Asn
XM_011514682.1:c.10883G>A	XP_011512984.1:p.Ser3628Asn
XM_011514683.1:c.10379G>A	XP_011512985.1:p.Ser3460Asn
XM_011514684.1:c.10310G>A	XP_011512986.1:p.Ser3437Asn
XM_011514687.1:c.10157-9885G>A	XP_011512989.1:n.10157-9885G>A
XM_011514690.1:c.5096G>A	XP_011512992.1:p.Ser1699Asn
XM_011514691.1:c.5096G>A	XP_011512993.1:p.Ser1699Asn
XR_926870.1:n.535+6732C>T
XR_926871.1:n.403+6732C>T
XR_926872.1:n.535+6732C>T
XM_011514680.3:c.11021G>A	XP_011512982.1:p.Ser3674Asn
XM_011514682.3:c.10883G>A	XP_011512984.1:p.Ser3628Asn
XM_011514683.3:c.10379G>A	XP_011512985.1:p.Ser3460Asn
XM_011514684.3:c.10310G>A	XP_011512986.1:p.Ser3437Asn
XM_011514690.3:c.5096G>A	XP_011512992.1:p.Ser1699Asn
XM_011514691.3:c.5096G>A	XP_011512993.1:p.Ser1699Asn
XM_017010944.2:c.11021G>A	XP_016866433.1:p.Ser3674Asn
XM_017010945.2:c.10946G>A	XP_016866434.1:p.Ser3649Asn
XM_017010946.2:c.10826G>A	XP_016866435.1:p.Ser3609Asn
XM_017010947.2:c.10757G>A	XP_016866436.1:p.Ser3586Asn
XM_017010948.2:c.10310G>A	XP_016866437.1:p.Ser3437Asn
XM_017010949.2:c.9161G>A	XP_016866438.1:p.Ser3054Asn
XR_001743469.1:n.11297G>A
XR_001744157.1:n.3145+6732C>T
XR_926870.2:n.3145+6732C>T
XR_926871.2:n.3013+6732C>T
XR_926872.2:n.3145+6732C>T
NM_138694.4:c.11021G>A MANE Select	NP_619639.3:p.Ser3674Asn