Canonical Allele Identifier: CA364418599

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51627030-C-G
• MyVariant Identifiers: chr6:g.51491828C>G (hg19) ; chr6:g.51627030C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627030C>G , CM000668.2:g.51627030C>G	GRCh38
NC_000006.11:g.51491828C>G , CM000668.1:g.51491828C>G	GRCh37
NC_000006.10:g.51599787C>G	NCBI36
NG_008753.1:g.465596G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11752G>C MANE Select	ENSP00000360158.3:p.Gly3918Arg
ENST00000371117.7:c.11752G>C	ENSP00000360158.3:p.Gly3918Arg
NM_138694.3:c.11752G>C	NP_619639.3:p.Gly3918Arg
XM_011514679.1:c.11752G>C	XP_011512981.1:p.Gly3918Arg
XM_011514680.1:c.11752G>C	XP_011512982.1:p.Gly3918Arg
XM_011514681.1:c.11623G>C	XP_011512983.1:p.Gly3875Arg
XM_011514682.1:c.11614G>C	XP_011512984.1:p.Gly3872Arg
XM_011514683.1:c.11110G>C	XP_011512985.1:p.Gly3704Arg
XM_011514684.1:c.11041G>C	XP_011512986.1:p.Gly3681Arg
XM_011514690.1:c.5827G>C	XP_011512992.1:p.Gly1943Arg
XM_011514691.1:c.5827G>C	XP_011512993.1:p.Gly1943Arg
XM_011514680.3:c.11752G>C	XP_011512982.1:p.Gly3918Arg
XM_011514682.3:c.11614G>C	XP_011512984.1:p.Gly3872Arg
XM_011514683.3:c.11110G>C	XP_011512985.1:p.Gly3704Arg
XM_011514684.3:c.11041G>C	XP_011512986.1:p.Gly3681Arg
XM_011514690.3:c.5827G>C	XP_011512992.1:p.Gly1943Arg
XM_011514691.3:c.5827G>C	XP_011512993.1:p.Gly1943Arg
XM_017010944.2:c.11752G>C	XP_016866433.1:p.Gly3918Arg
XM_017010945.2:c.11677G>C	XP_016866434.1:p.Gly3893Arg
XM_017010946.2:c.11557G>C	XP_016866435.1:p.Gly3853Arg
XM_017010947.2:c.11488G>C	XP_016866436.1:p.Gly3830Arg
XM_017010948.2:c.11041G>C	XP_016866437.1:p.Gly3681Arg
XM_017010949.2:c.9892G>C	XP_016866438.1:p.Gly3298Arg
NM_138694.4:c.11752G>C MANE Select	NP_619639.3:p.Gly3918Arg