Canonical Allele Identifier: CA2578644372

Gene: PKHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51626917A>G , CM000668.2:g.51626917A>G	GRCh38
NC_000006.11:g.51491715A>G , CM000668.1:g.51491715A>G	GRCh37
NC_000006.10:g.51599674A>G	NCBI36
NG_008753.1:g.465709T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.11785+80T>C MANE Select	ENSP00000360158.3:n.11785+80T>C
ENST00000371117.7:c.11785+80T>C	ENSP00000360158.3:n.11785+80T>C
NM_138694.3:c.11785+80T>C	NP_619639.3:n.11785+80T>C
XM_011514679.1:c.11785+80T>C	XP_011512981.1:n.11785+80T>C
XM_011514680.1:c.11785+80T>C	XP_011512982.1:n.11785+80T>C
XM_011514681.1:c.11656+80T>C	XP_011512983.1:n.11656+80T>C
XM_011514682.1:c.11647+80T>C	XP_011512984.1:n.11647+80T>C
XM_011514683.1:c.11143+80T>C	XP_011512985.1:n.11143+80T>C
XM_011514684.1:c.11074+80T>C	XP_011512986.1:n.11074+80T>C
XM_011514690.1:c.5860+80T>C	XP_011512992.1:n.5860+80T>C
XM_011514691.1:c.5860+80T>C	XP_011512993.1:n.5860+80T>C
XM_011514680.3:c.11785+80T>C	XP_011512982.1:n.11785+80T>C
XM_011514682.3:c.11647+80T>C	XP_011512984.1:n.11647+80T>C
XM_011514683.3:c.11143+80T>C	XP_011512985.1:n.11143+80T>C
XM_011514684.3:c.11074+80T>C	XP_011512986.1:n.11074+80T>C
XM_011514690.3:c.5860+80T>C	XP_011512992.1:n.5860+80T>C
XM_011514691.3:c.5860+80T>C	XP_011512993.1:n.5860+80T>C
XM_017010944.2:c.11785+80T>C	XP_016866433.1:n.11785+80T>C
XM_017010945.2:c.11710+80T>C	XP_016866434.1:n.11710+80T>C
XM_017010946.2:c.11590+80T>C	XP_016866435.1:n.11590+80T>C
XM_017010947.2:c.11521+80T>C	XP_016866436.1:n.11521+80T>C
XM_017010948.2:c.11074+80T>C	XP_016866437.1:n.11074+80T>C
XM_017010949.2:c.9925+80T>C	XP_016866438.1:n.9925+80T>C
NM_138694.4:c.11785+80T>C MANE Select	NP_619639.3:n.11785+80T>C