Canonical Allele Identifier: CA364426388

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51649177G>A , CM000668.2:g.51649177G>A	GRCh38
NC_000006.11:g.51513975G>A , CM000668.1:g.51513975G>A	GRCh37
NC_000006.10:g.51621934G>A	NCBI36
NG_008753.1:g.443449C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.11218C>T MANE Select	NP_619639.3:p.Pro3740Ser
ENST00000371117.8:c.11218C>T MANE Select	ENSP00000360158.3:p.Pro3740Ser
NM_138694.3:c.11218C>T	NP_619639.3:p.Pro3740Ser
ENST00000371117.7:c.11218C>T	ENSP00000360158.3:p.Pro3740Ser
XM_011514679.1:c.11218C>T	XP_011512981.1:p.Pro3740Ser
XM_011514680.1:c.11218C>T	XP_011512982.1:p.Pro3740Ser
XM_011514680.3:c.11218C>T	XP_011512982.1:p.Pro3740Ser
XM_011514681.1:c.11089C>T	XP_011512983.1:p.Pro3697Ser
XM_011514682.1:c.11080C>T	XP_011512984.1:p.Pro3694Ser
XM_011514682.3:c.11080C>T	XP_011512984.1:p.Pro3694Ser
XM_011514683.1:c.10576C>T	XP_011512985.1:p.Pro3526Ser
XM_011514683.3:c.10576C>T	XP_011512985.1:p.Pro3526Ser
XM_011514684.1:c.10507C>T	XP_011512986.1:p.Pro3503Ser
XM_011514684.3:c.10507C>T	XP_011512986.1:p.Pro3503Ser
XM_011514687.1:c.*12C>T	XP_011512989.1:n.*12C>T
XM_011514690.1:c.5293C>T	XP_011512992.1:p.Pro1765Ser
XM_011514690.3:c.5293C>T	XP_011512992.1:p.Pro1765Ser
XM_011514691.1:c.5293C>T	XP_011512993.1:p.Pro1765Ser
XM_011514691.3:c.5293C>T	XP_011512993.1:p.Pro1765Ser
XM_017010944.2:c.11218C>T	XP_016866433.1:p.Pro3740Ser
XM_017010945.2:c.11143C>T	XP_016866434.1:p.Pro3715Ser
XM_017010946.2:c.11023C>T	XP_016866435.1:p.Pro3675Ser
XM_017010947.2:c.10954C>T	XP_016866436.1:p.Pro3652Ser
XM_017010948.2:c.10507C>T	XP_016866437.1:p.Pro3503Ser
XM_017010949.2:c.9358C>T	XP_016866438.1:p.Pro3120Ser
XR_001743469.1:n.11494C>T