Canonical Allele Identifier: CA364418307

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51491798C>G (hg19) ; chr6:g.51627000C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627000C>G , CM000668.2:g.51627000C>G	GRCh38
NC_000006.11:g.51491798C>G , CM000668.1:g.51491798C>G	GRCh37
NC_000006.10:g.51599757C>G	NCBI36
NG_008753.1:g.465626G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11782G>C MANE Select	ENSP00000360158.3:p.Glu3928Gln
ENST00000371117.7:c.11782G>C	ENSP00000360158.3:p.Glu3928Gln
NM_138694.3:c.11782G>C	NP_619639.3:p.Glu3928Gln
XM_011514679.1:c.11782G>C	XP_011512981.1:p.Glu3928Gln
XM_011514680.1:c.11782G>C	XP_011512982.1:p.Glu3928Gln
XM_011514681.1:c.11653G>C	XP_011512983.1:p.Glu3885Gln
XM_011514682.1:c.11644G>C	XP_011512984.1:p.Glu3882Gln
XM_011514683.1:c.11140G>C	XP_011512985.1:p.Glu3714Gln
XM_011514684.1:c.11071G>C	XP_011512986.1:p.Glu3691Gln
XM_011514690.1:c.5857G>C	XP_011512992.1:p.Glu1953Gln
XM_011514691.1:c.5857G>C	XP_011512993.1:p.Glu1953Gln
XM_011514680.3:c.11782G>C	XP_011512982.1:p.Glu3928Gln
XM_011514682.3:c.11644G>C	XP_011512984.1:p.Glu3882Gln
XM_011514683.3:c.11140G>C	XP_011512985.1:p.Glu3714Gln
XM_011514684.3:c.11071G>C	XP_011512986.1:p.Glu3691Gln
XM_011514690.3:c.5857G>C	XP_011512992.1:p.Glu1953Gln
XM_011514691.3:c.5857G>C	XP_011512993.1:p.Glu1953Gln
XM_017010944.2:c.11782G>C	XP_016866433.1:p.Glu3928Gln
XM_017010945.2:c.11707G>C	XP_016866434.1:p.Glu3903Gln
XM_017010946.2:c.11587G>C	XP_016866435.1:p.Glu3863Gln
XM_017010947.2:c.11518G>C	XP_016866436.1:p.Glu3840Gln
XM_017010948.2:c.11071G>C	XP_016866437.1:p.Glu3691Gln
XM_017010949.2:c.9922G>C	XP_016866438.1:p.Glu3308Gln
NM_138694.4:c.11782G>C MANE Select	NP_619639.3:p.Glu3928Gln