Canonical Allele Identifier: CA450411484

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51491802C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627004C>G , CM000668.2:g.51627004C>G	GRCh38
NC_000006.11:g.51491802C>G , CM000668.1:g.51491802C>G	GRCh37
NC_000006.10:g.51599761C>G	NCBI36
NG_008753.1:g.465622G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11778G>C MANE Select	ENSP00000360158.3:p.Val3926=
ENST00000371117.7:c.11778G>C	ENSP00000360158.3:p.Val3926=
NM_138694.3:c.11778G>C	NP_619639.3:p.Val3926=
XM_011514679.1:c.11778G>C	XP_011512981.1:p.Val3926=
XM_011514680.1:c.11778G>C	XP_011512982.1:p.Val3926=
XM_011514681.1:c.11649G>C	XP_011512983.1:p.Val3883=
XM_011514682.1:c.11640G>C	XP_011512984.1:p.Val3880=
XM_011514683.1:c.11136G>C	XP_011512985.1:p.Val3712=
XM_011514684.1:c.11067G>C	XP_011512986.1:p.Val3689=
XM_011514690.1:c.5853G>C	XP_011512992.1:p.Val1951=
XM_011514691.1:c.5853G>C	XP_011512993.1:p.Val1951=
XM_011514680.3:c.11778G>C	XP_011512982.1:p.Val3926=
XM_011514682.3:c.11640G>C	XP_011512984.1:p.Val3880=
XM_011514683.3:c.11136G>C	XP_011512985.1:p.Val3712=
XM_011514684.3:c.11067G>C	XP_011512986.1:p.Val3689=
XM_011514690.3:c.5853G>C	XP_011512992.1:p.Val1951=
XM_011514691.3:c.5853G>C	XP_011512993.1:p.Val1951=
XM_017010944.2:c.11778G>C	XP_016866433.1:p.Val3926=
XM_017010945.2:c.11703G>C	XP_016866434.1:p.Val3901=
XM_017010946.2:c.11583G>C	XP_016866435.1:p.Val3861=
XM_017010947.2:c.11514G>C	XP_016866436.1:p.Val3838=
XM_017010948.2:c.11067G>C	XP_016866437.1:p.Val3689=
XM_017010949.2:c.9918G>C	XP_016866438.1:p.Val3306=
NM_138694.4:c.11778G>C MANE Select	NP_619639.3:p.Val3926=