Canonical Allele Identifier: CA450411537

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51491850T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627052T>C , CM000668.2:g.51627052T>C	GRCh38
NC_000006.11:g.51491850T>C , CM000668.1:g.51491850T>C	GRCh37
NC_000006.10:g.51599809T>C	NCBI36
NG_008753.1:g.465574A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11730A>G MANE Select	ENSP00000360158.3:p.Ser3910=
ENST00000371117.7:c.11730A>G	ENSP00000360158.3:p.Ser3910=
NM_138694.3:c.11730A>G	NP_619639.3:p.Ser3910=
XM_011514679.1:c.11730A>G	XP_011512981.1:p.Ser3910=
XM_011514680.1:c.11730A>G	XP_011512982.1:p.Ser3910=
XM_011514681.1:c.11601A>G	XP_011512983.1:p.Ser3867=
XM_011514682.1:c.11592A>G	XP_011512984.1:p.Ser3864=
XM_011514683.1:c.11088A>G	XP_011512985.1:p.Ser3696=
XM_011514684.1:c.11019A>G	XP_011512986.1:p.Ser3673=
XM_011514690.1:c.5805A>G	XP_011512992.1:p.Ser1935=
XM_011514691.1:c.5805A>G	XP_011512993.1:p.Ser1935=
XM_011514680.3:c.11730A>G	XP_011512982.1:p.Ser3910=
XM_011514682.3:c.11592A>G	XP_011512984.1:p.Ser3864=
XM_011514683.3:c.11088A>G	XP_011512985.1:p.Ser3696=
XM_011514684.3:c.11019A>G	XP_011512986.1:p.Ser3673=
XM_011514690.3:c.5805A>G	XP_011512992.1:p.Ser1935=
XM_011514691.3:c.5805A>G	XP_011512993.1:p.Ser1935=
XM_017010944.2:c.11730A>G	XP_016866433.1:p.Ser3910=
XM_017010945.2:c.11655A>G	XP_016866434.1:p.Ser3885=
XM_017010946.2:c.11535A>G	XP_016866435.1:p.Ser3845=
XM_017010947.2:c.11466A>G	XP_016866436.1:p.Ser3822=
XM_017010948.2:c.11019A>G	XP_016866437.1:p.Ser3673=
XM_017010949.2:c.9870A>G	XP_016866438.1:p.Ser3290=
NM_138694.4:c.11730A>G MANE Select	NP_619639.3:p.Ser3910=