Canonical Allele Identifier: CA242990

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 196145
• ClinVar RCV Id: RCV000176895 ; RCV001276778
• dbSNP Id: rs794727466
• COSMIC: COSM3921953 ; COSM3921954
• MyVariant Identifiers: chr6:g.51900495C>T (hg19) ; chr6:g.52035697C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52035697C>T , CM000668.2:g.52035697C>T	GRCh38
NC_000006.11:g.51900495C>T , CM000668.1:g.51900495C>T	GRCh37
NC_000006.10:g.52008454C>T	NCBI36
NG_008753.1:g.56929G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.3122G>A MANE Select	ENSP00000360158.3:p.Gly1041Asp
ENST00000340994.4:c.3122G>A	ENSP00000341097.4:p.Gly1041Asp
ENST00000371117.7:c.3122G>A	ENSP00000360158.3:p.Gly1041Asp
NM_138694.3:c.3122G>A	NP_619639.3:p.Gly1041Asp
NM_170724.2:c.3122G>A	NP_733842.2:p.Gly1041Asp
XM_011514679.1:c.3122G>A	XP_011512981.1:p.Gly1041Asp
XM_011514680.1:c.3122G>A	XP_011512982.1:p.Gly1041Asp
XM_011514681.1:c.3122G>A	XP_011512983.1:p.Gly1041Asp
XM_011514682.1:c.3122G>A	XP_011512984.1:p.Gly1041Asp
XM_011514683.1:c.3122G>A	XP_011512985.1:p.Gly1041Asp
XM_011514684.1:c.2411G>A	XP_011512986.1:p.Gly804Asp
XM_011514685.1:c.3122G>A	XP_011512987.1:p.Gly1041Asp
XM_011514686.1:c.3122G>A	XP_011512988.1:p.Gly1041Asp
XM_011514687.1:c.3122G>A	XP_011512989.1:p.Gly1041Asp
XM_011514688.1:c.3122G>A	XP_011512990.1:p.Gly1041Asp
XM_011514689.1:c.3122G>A	XP_011512991.1:p.Gly1041Asp
XM_011514680.3:c.3122G>A	XP_011512982.1:p.Gly1041Asp
XM_011514682.3:c.3122G>A	XP_011512984.1:p.Gly1041Asp
XM_011514683.3:c.3122G>A	XP_011512985.1:p.Gly1041Asp
XM_011514684.3:c.2411G>A	XP_011512986.1:p.Gly804Asp
XM_011514686.2:c.3122G>A	XP_011512988.1:p.Gly1041Asp
XM_011514688.2:c.3122G>A	XP_011512990.1:p.Gly1041Asp
XM_017010944.2:c.3122G>A	XP_016866433.1:p.Gly1041Asp
XM_017010945.2:c.3047G>A	XP_016866434.1:p.Gly1016Asp
XM_017010946.2:c.3122G>A	XP_016866435.1:p.Gly1041Asp
XM_017010947.2:c.3122G>A	XP_016866436.1:p.Gly1041Asp
XM_017010948.2:c.2411G>A	XP_016866437.1:p.Gly804Asp
XM_017010949.2:c.1262G>A	XP_016866438.1:p.Gly421Asp
XM_017010950.1:c.3122G>A	XP_016866439.1:p.Gly1041Asp
XM_017010951.1:c.3122G>A	XP_016866440.1:p.Gly1041Asp
XM_017010952.1:c.3122G>A	XP_016866441.1:p.Gly1041Asp
XR_001743469.1:n.3398G>A
NM_138694.4:c.3122G>A MANE Select	NP_619639.3:p.Gly1041Asp
NM_170724.3:c.3122G>A	NP_733842.2:p.Gly1041Asp