Canonical Allele Identifier: CA450412032

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51744467A>G , CM000668.2:g.51744467A>G	GRCh38
NC_000006.11:g.51609265A>G , CM000668.1:g.51609265A>G	GRCh37
NC_000006.10:g.51717224A>G	NCBI36
NG_008753.1:g.348159T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.10074T>C MANE Select	NP_619639.3:p.Asp3358=
ENST00000371117.8:c.10074T>C MANE Select	ENSP00000360158.3:p.Asp3358=
NM_138694.3:c.10074T>C	NP_619639.3:p.Asp3358=
NM_170724.2:c.10074T>C	NP_733842.2:p.Asp3358=
NM_170724.3:c.10074T>C	NP_733842.2:p.Asp3358=
ENST00000340994.4:c.10074T>C	ENSP00000341097.4:p.Asp3358=
ENST00000371117.7:c.10074T>C	ENSP00000360158.3:p.Asp3358=
XM_011514679.1:c.10074T>C	XP_011512981.1:p.Asp3358=
XM_011514680.1:c.10074T>C	XP_011512982.1:p.Asp3358=
XM_011514680.3:c.10074T>C	XP_011512982.1:p.Asp3358=
XM_011514681.1:c.9945T>C	XP_011512983.1:p.Asp3315=
XM_011514682.1:c.9936T>C	XP_011512984.1:p.Asp3312=
XM_011514682.3:c.9936T>C	XP_011512984.1:p.Asp3312=
XM_011514683.1:c.9432T>C	XP_011512985.1:p.Asp3144=
XM_011514683.3:c.9432T>C	XP_011512985.1:p.Asp3144=
XM_011514684.1:c.9363T>C	XP_011512986.1:p.Asp3121=
XM_011514684.3:c.9363T>C	XP_011512986.1:p.Asp3121=
XM_011514685.1:c.10074T>C	XP_011512987.1:p.Asp3358=
XM_011514686.1:c.10074T>C	XP_011512988.1:p.Asp3358=
XM_011514686.2:c.10074T>C	XP_011512988.1:p.Asp3358=
XM_011514687.1:c.10074T>C	XP_011512989.1:p.Asp3358=
XM_011514690.1:c.4149T>C	XP_011512992.1:p.Asp1383=
XM_011514690.3:c.4149T>C	XP_011512992.1:p.Asp1383=
XM_011514691.1:c.4149T>C	XP_011512993.1:p.Asp1383=
XM_011514691.3:c.4149T>C	XP_011512993.1:p.Asp1383=
XM_017010944.2:c.10074T>C	XP_016866433.1:p.Asp3358=
XM_017010945.2:c.9999T>C	XP_016866434.1:p.Asp3333=
XM_017010946.2:c.9879T>C	XP_016866435.1:p.Asp3293=
XM_017010947.2:c.9810T>C	XP_016866436.1:p.Asp3270=
XM_017010948.2:c.9363T>C	XP_016866437.1:p.Asp3121=
XM_017010949.2:c.8214T>C	XP_016866438.1:p.Asp2738=
XM_017010950.1:c.10074T>C	XP_016866439.1:p.Asp3358=
XR_001743469.1:n.10350T>C