Canonical Allele Identifier: CA450613748

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51613279G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748481G>A , CM000668.2:g.51748481G>A	GRCh38
NC_000006.11:g.51613279G>A , CM000668.1:g.51613279G>A	GRCh37
NC_000006.10:g.51721238G>A	NCBI36
NG_008753.1:g.344145C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9135C>T MANE Select	ENSP00000360158.3:p.Gly3045=
ENST00000340994.4:c.9135C>T	ENSP00000341097.4:p.Gly3045=
ENST00000371117.7:c.9135C>T	ENSP00000360158.3:p.Gly3045=
NM_138694.3:c.9135C>T	NP_619639.3:p.Gly3045=
NM_170724.2:c.9135C>T	NP_733842.2:p.Gly3045=
XM_011514679.1:c.9135C>T	XP_011512981.1:p.Gly3045=
XM_011514680.1:c.9135C>T	XP_011512982.1:p.Gly3045=
XM_011514681.1:c.9006C>T	XP_011512983.1:p.Gly3002=
XM_011514682.1:c.8997C>T	XP_011512984.1:p.Gly2999=
XM_011514683.1:c.8493C>T	XP_011512985.1:p.Gly2831=
XM_011514684.1:c.8424C>T	XP_011512986.1:p.Gly2808=
XM_011514685.1:c.9135C>T	XP_011512987.1:p.Gly3045=
XM_011514686.1:c.9135C>T	XP_011512988.1:p.Gly3045=
XM_011514687.1:c.9135C>T	XP_011512989.1:p.Gly3045=
XM_011514688.1:c.9135C>T	XP_011512990.1:p.Gly3045=
XM_011514690.1:c.3210C>T	XP_011512992.1:p.Gly1070=
XM_011514691.1:c.3210C>T	XP_011512993.1:p.Gly1070=
XM_011514680.3:c.9135C>T	XP_011512982.1:p.Gly3045=
XM_011514682.3:c.8997C>T	XP_011512984.1:p.Gly2999=
XM_011514683.3:c.8493C>T	XP_011512985.1:p.Gly2831=
XM_011514684.3:c.8424C>T	XP_011512986.1:p.Gly2808=
XM_011514686.2:c.9135C>T	XP_011512988.1:p.Gly3045=
XM_011514688.2:c.9135C>T	XP_011512990.1:p.Gly3045=
XM_011514690.3:c.3210C>T	XP_011512992.1:p.Gly1070=
XM_011514691.3:c.3210C>T	XP_011512993.1:p.Gly1070=
XM_017010944.2:c.9135C>T	XP_016866433.1:p.Gly3045=
XM_017010945.2:c.9060C>T	XP_016866434.1:p.Gly3020=
XM_017010946.2:c.8940C>T	XP_016866435.1:p.Gly2980=
XM_017010947.2:c.8871C>T	XP_016866436.1:p.Gly2957=
XM_017010948.2:c.8424C>T	XP_016866437.1:p.Gly2808=
XM_017010949.2:c.7275C>T	XP_016866438.1:p.Gly2425=
XM_017010950.1:c.9135C>T	XP_016866439.1:p.Gly3045=
XR_001743469.1:n.9411C>T
NM_138694.4:c.9135C>T MANE Select	NP_619639.3:p.Gly3045=
NM_170724.3:c.9135C>T	NP_733842.2:p.Gly3045=