Canonical Allele Identifier: CA364421693

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51638887G>C , CM000668.2:g.51638887G>C	GRCh38
NC_000006.11:g.51503685G>C , CM000668.1:g.51503685G>C	GRCh37
NC_000006.10:g.51611644G>C	NCBI36
NG_008753.1:g.453739C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_138694.4:c.11468C>G MANE Select	NP_619639.3:p.Ser3823Ter
ENST00000371117.8:c.11468C>G MANE Select	ENSP00000360158.3:p.Ser3823Ter
NM_138694.3:c.11468C>G	NP_619639.3:p.Ser3823Ter
ENST00000371117.7:c.11468C>G	ENSP00000360158.3:p.Ser3823Ter
XM_011514679.1:c.11468C>G	XP_011512981.1:p.Ser3823Ter
XM_011514680.1:c.11468C>G	XP_011512982.1:p.Ser3823Ter
XM_011514680.3:c.11468C>G	XP_011512982.1:p.Ser3823Ter
XM_011514681.1:c.11339C>G	XP_011512983.1:p.Ser3780Ter
XM_011514682.1:c.11330C>G	XP_011512984.1:p.Ser3777Ter
XM_011514682.3:c.11330C>G	XP_011512984.1:p.Ser3777Ter
XM_011514683.1:c.10826C>G	XP_011512985.1:p.Ser3609Ter
XM_011514683.3:c.10826C>G	XP_011512985.1:p.Ser3609Ter
XM_011514684.1:c.10757C>G	XP_011512986.1:p.Ser3586Ter
XM_011514684.3:c.10757C>G	XP_011512986.1:p.Ser3586Ter
XM_011514690.1:c.5543C>G	XP_011512992.1:p.Ser1848Ter
XM_011514690.3:c.5543C>G	XP_011512992.1:p.Ser1848Ter
XM_011514691.1:c.5543C>G	XP_011512993.1:p.Ser1848Ter
XM_011514691.3:c.5543C>G	XP_011512993.1:p.Ser1848Ter
XM_017010944.2:c.11468C>G	XP_016866433.1:p.Ser3823Ter
XM_017010945.2:c.11393C>G	XP_016866434.1:p.Ser3798Ter
XM_017010946.2:c.11273C>G	XP_016866435.1:p.Ser3758Ter
XM_017010947.2:c.11204C>G	XP_016866436.1:p.Ser3735Ter
XM_017010948.2:c.10757C>G	XP_016866437.1:p.Ser3586Ter
XM_017010949.2:c.9608C>G	XP_016866438.1:p.Ser3203Ter
XR_001743469.1:n.11758C>G