Canonical Allele Identifier: CA364426703

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51618034C>T (hg19) ; chr6:g.51753236C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51753236C>T , CM000668.2:g.51753236C>T	GRCh38
NC_000006.11:g.51618034C>T , CM000668.1:g.51618034C>T	GRCh37
NC_000006.10:g.51725993C>T	NCBI36
NG_008753.1:g.339390G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.8915G>A MANE Select	ENSP00000360158.3:p.Gly2972Glu
ENST00000340994.4:c.8915G>A	ENSP00000341097.4:p.Gly2972Glu
ENST00000371117.7:c.8915G>A	ENSP00000360158.3:p.Gly2972Glu
NM_138694.3:c.8915G>A	NP_619639.3:p.Gly2972Glu
NM_170724.2:c.8915G>A	NP_733842.2:p.Gly2972Glu
XM_011514679.1:c.8915G>A	XP_011512981.1:p.Gly2972Glu
XM_011514680.1:c.8915G>A	XP_011512982.1:p.Gly2972Glu
XM_011514681.1:c.8786G>A	XP_011512983.1:p.Gly2929Glu
XM_011514682.1:c.8777G>A	XP_011512984.1:p.Gly2926Glu
XM_011514683.1:c.8273G>A	XP_011512985.1:p.Gly2758Glu
XM_011514684.1:c.8204G>A	XP_011512986.1:p.Gly2735Glu
XM_011514685.1:c.8915G>A	XP_011512987.1:p.Gly2972Glu
XM_011514686.1:c.8915G>A	XP_011512988.1:p.Gly2972Glu
XM_011514687.1:c.8915G>A	XP_011512989.1:p.Gly2972Glu
XM_011514688.1:c.8915G>A	XP_011512990.1:p.Gly2972Glu
XM_011514690.1:c.2990G>A	XP_011512992.1:p.Gly997Glu
XM_011514691.1:c.2990G>A	XP_011512993.1:p.Gly997Glu
XM_011514680.3:c.8915G>A	XP_011512982.1:p.Gly2972Glu
XM_011514682.3:c.8777G>A	XP_011512984.1:p.Gly2926Glu
XM_011514683.3:c.8273G>A	XP_011512985.1:p.Gly2758Glu
XM_011514684.3:c.8204G>A	XP_011512986.1:p.Gly2735Glu
XM_011514686.2:c.8915G>A	XP_011512988.1:p.Gly2972Glu
XM_011514688.2:c.8915G>A	XP_011512990.1:p.Gly2972Glu
XM_011514690.3:c.2990G>A	XP_011512992.1:p.Gly997Glu
XM_011514691.3:c.2990G>A	XP_011512993.1:p.Gly997Glu
XM_017010944.2:c.8915G>A	XP_016866433.1:p.Gly2972Glu
XM_017010945.2:c.8840G>A	XP_016866434.1:p.Gly2947Glu
XM_017010946.2:c.8720G>A	XP_016866435.1:p.Gly2907Glu
XM_017010947.2:c.8651G>A	XP_016866436.1:p.Gly2884Glu
XM_017010948.2:c.8204G>A	XP_016866437.1:p.Gly2735Glu
XM_017010949.2:c.7055G>A	XP_016866438.1:p.Gly2352Glu
XM_017010950.1:c.8915G>A	XP_016866439.1:p.Gly2972Glu
XR_001743469.1:n.9191G>A
NM_138694.4:c.8915G>A MANE Select	NP_619639.3:p.Gly2972Glu
NM_170724.3:c.8915G>A	NP_733842.2:p.Gly2972Glu