Canonical Allele Identifier: CA450411538

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51491853G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627055G>A , CM000668.2:g.51627055G>A	GRCh38
NC_000006.11:g.51491853G>A , CM000668.1:g.51491853G>A	GRCh37
NC_000006.10:g.51599812G>A	NCBI36
NG_008753.1:g.465571C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11727C>T MANE Select	ENSP00000360158.3:p.Ile3909=
ENST00000371117.7:c.11727C>T	ENSP00000360158.3:p.Ile3909=
NM_138694.3:c.11727C>T	NP_619639.3:p.Ile3909=
XM_011514679.1:c.11727C>T	XP_011512981.1:p.Ile3909=
XM_011514680.1:c.11727C>T	XP_011512982.1:p.Ile3909=
XM_011514681.1:c.11598C>T	XP_011512983.1:p.Ile3866=
XM_011514682.1:c.11589C>T	XP_011512984.1:p.Ile3863=
XM_011514683.1:c.11085C>T	XP_011512985.1:p.Ile3695=
XM_011514684.1:c.11016C>T	XP_011512986.1:p.Ile3672=
XM_011514690.1:c.5802C>T	XP_011512992.1:p.Ile1934=
XM_011514691.1:c.5802C>T	XP_011512993.1:p.Ile1934=
XM_011514680.3:c.11727C>T	XP_011512982.1:p.Ile3909=
XM_011514682.3:c.11589C>T	XP_011512984.1:p.Ile3863=
XM_011514683.3:c.11085C>T	XP_011512985.1:p.Ile3695=
XM_011514684.3:c.11016C>T	XP_011512986.1:p.Ile3672=
XM_011514690.3:c.5802C>T	XP_011512992.1:p.Ile1934=
XM_011514691.3:c.5802C>T	XP_011512993.1:p.Ile1934=
XM_017010944.2:c.11727C>T	XP_016866433.1:p.Ile3909=
XM_017010945.2:c.11652C>T	XP_016866434.1:p.Ile3884=
XM_017010946.2:c.11532C>T	XP_016866435.1:p.Ile3844=
XM_017010947.2:c.11463C>T	XP_016866436.1:p.Ile3821=
XM_017010948.2:c.11016C>T	XP_016866437.1:p.Ile3672=
XM_017010949.2:c.9867C>T	XP_016866438.1:p.Ile3289=
NM_138694.4:c.11727C>T MANE Select	NP_619639.3:p.Ile3909=