Canonical Allele Identifier: CA450411535

Gene: PKHD1

Linked Data

• COSMIC: COSM1080148
• MyVariant Identifiers: chr6:g.51491847G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627049G>T , CM000668.2:g.51627049G>T	GRCh38
NC_000006.11:g.51491847G>T , CM000668.1:g.51491847G>T	GRCh37
NC_000006.10:g.51599806G>T	NCBI36
NG_008753.1:g.465577C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11733C>A MANE Select	ENSP00000360158.3:p.Ser3911=
ENST00000371117.7:c.11733C>A	ENSP00000360158.3:p.Ser3911=
NM_138694.3:c.11733C>A	NP_619639.3:p.Ser3911=
XM_011514679.1:c.11733C>A	XP_011512981.1:p.Ser3911=
XM_011514680.1:c.11733C>A	XP_011512982.1:p.Ser3911=
XM_011514681.1:c.11604C>A	XP_011512983.1:p.Ser3868=
XM_011514682.1:c.11595C>A	XP_011512984.1:p.Ser3865=
XM_011514683.1:c.11091C>A	XP_011512985.1:p.Ser3697=
XM_011514684.1:c.11022C>A	XP_011512986.1:p.Ser3674=
XM_011514690.1:c.5808C>A	XP_011512992.1:p.Ser1936=
XM_011514691.1:c.5808C>A	XP_011512993.1:p.Ser1936=
XM_011514680.3:c.11733C>A	XP_011512982.1:p.Ser3911=
XM_011514682.3:c.11595C>A	XP_011512984.1:p.Ser3865=
XM_011514683.3:c.11091C>A	XP_011512985.1:p.Ser3697=
XM_011514684.3:c.11022C>A	XP_011512986.1:p.Ser3674=
XM_011514690.3:c.5808C>A	XP_011512992.1:p.Ser1936=
XM_011514691.3:c.5808C>A	XP_011512993.1:p.Ser1936=
XM_017010944.2:c.11733C>A	XP_016866433.1:p.Ser3911=
XM_017010945.2:c.11658C>A	XP_016866434.1:p.Ser3886=
XM_017010946.2:c.11538C>A	XP_016866435.1:p.Ser3846=
XM_017010947.2:c.11469C>A	XP_016866436.1:p.Ser3823=
XM_017010948.2:c.11022C>A	XP_016866437.1:p.Ser3674=
XM_017010949.2:c.9873C>A	XP_016866438.1:p.Ser3291=
NM_138694.4:c.11733C>A MANE Select	NP_619639.3:p.Ser3911=