Canonical Allele Identifier: CA364421025

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51612958G>C (hg19) ; chr6:g.51748160G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748160G>C , CM000668.2:g.51748160G>C	GRCh38
NC_000006.11:g.51612958G>C , CM000668.1:g.51612958G>C	GRCh37
NC_000006.10:g.51720917G>C	NCBI36
NG_008753.1:g.344466C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9456C>G MANE Select	ENSP00000360158.3:p.Asn3152Lys
ENST00000340994.4:c.9456C>G	ENSP00000341097.4:p.Asn3152Lys
ENST00000371117.7:c.9456C>G	ENSP00000360158.3:p.Asn3152Lys
NM_138694.3:c.9456C>G	NP_619639.3:p.Asn3152Lys
NM_170724.2:c.9456C>G	NP_733842.2:p.Asn3152Lys
XM_011514679.1:c.9456C>G	XP_011512981.1:p.Asn3152Lys
XM_011514680.1:c.9456C>G	XP_011512982.1:p.Asn3152Lys
XM_011514681.1:c.9327C>G	XP_011512983.1:p.Asn3109Lys
XM_011514682.1:c.9318C>G	XP_011512984.1:p.Asn3106Lys
XM_011514683.1:c.8814C>G	XP_011512985.1:p.Asn2938Lys
XM_011514684.1:c.8745C>G	XP_011512986.1:p.Asn2915Lys
XM_011514685.1:c.9456C>G	XP_011512987.1:p.Asn3152Lys
XM_011514686.1:c.9456C>G	XP_011512988.1:p.Asn3152Lys
XM_011514687.1:c.9456C>G	XP_011512989.1:p.Asn3152Lys
XM_011514688.1:c.9456C>G	XP_011512990.1:p.Asn3152Lys
XM_011514690.1:c.3531C>G	XP_011512992.1:p.Asn1177Lys
XM_011514691.1:c.3531C>G	XP_011512993.1:p.Asn1177Lys
XM_011514680.3:c.9456C>G	XP_011512982.1:p.Asn3152Lys
XM_011514682.3:c.9318C>G	XP_011512984.1:p.Asn3106Lys
XM_011514683.3:c.8814C>G	XP_011512985.1:p.Asn2938Lys
XM_011514684.3:c.8745C>G	XP_011512986.1:p.Asn2915Lys
XM_011514686.2:c.9456C>G	XP_011512988.1:p.Asn3152Lys
XM_011514688.2:c.9456C>G	XP_011512990.1:p.Asn3152Lys
XM_011514690.3:c.3531C>G	XP_011512992.1:p.Asn1177Lys
XM_011514691.3:c.3531C>G	XP_011512993.1:p.Asn1177Lys
XM_017010944.2:c.9456C>G	XP_016866433.1:p.Asn3152Lys
XM_017010945.2:c.9381C>G	XP_016866434.1:p.Asn3127Lys
XM_017010946.2:c.9261C>G	XP_016866435.1:p.Asn3087Lys
XM_017010947.2:c.9192C>G	XP_016866436.1:p.Asn3064Lys
XM_017010948.2:c.8745C>G	XP_016866437.1:p.Asn2915Lys
XM_017010949.2:c.7596C>G	XP_016866438.1:p.Asn2532Lys
XM_017010950.1:c.9456C>G	XP_016866439.1:p.Asn3152Lys
XR_001743469.1:n.9732C>G
NM_138694.4:c.9456C>G MANE Select	NP_619639.3:p.Asn3152Lys
NM_170724.3:c.9456C>G	NP_733842.2:p.Asn3152Lys