Canonical Allele Identifier: CA364418900

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51491883C>G (hg19) ; chr6:g.51627085C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627085C>G , CM000668.2:g.51627085C>G	GRCh38
NC_000006.11:g.51491883C>G , CM000668.1:g.51491883C>G	GRCh37
NC_000006.10:g.51599842C>G	NCBI36
NG_008753.1:g.465541G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11697G>C MANE Select	ENSP00000360158.3:p.Gln3899His
ENST00000371117.7:c.11697G>C	ENSP00000360158.3:p.Gln3899His
NM_138694.3:c.11697G>C	NP_619639.3:p.Gln3899His
XM_011514679.1:c.11697G>C	XP_011512981.1:p.Gln3899His
XM_011514680.1:c.11697G>C	XP_011512982.1:p.Gln3899His
XM_011514681.1:c.11568G>C	XP_011512983.1:p.Gln3856His
XM_011514682.1:c.11559G>C	XP_011512984.1:p.Gln3853His
XM_011514683.1:c.11055G>C	XP_011512985.1:p.Gln3685His
XM_011514684.1:c.10986G>C	XP_011512986.1:p.Gln3662His
XM_011514690.1:c.5772G>C	XP_011512992.1:p.Gln1924His
XM_011514691.1:c.5772G>C	XP_011512993.1:p.Gln1924His
XM_011514680.3:c.11697G>C	XP_011512982.1:p.Gln3899His
XM_011514682.3:c.11559G>C	XP_011512984.1:p.Gln3853His
XM_011514683.3:c.11055G>C	XP_011512985.1:p.Gln3685His
XM_011514684.3:c.10986G>C	XP_011512986.1:p.Gln3662His
XM_011514690.3:c.5772G>C	XP_011512992.1:p.Gln1924His
XM_011514691.3:c.5772G>C	XP_011512993.1:p.Gln1924His
XM_017010944.2:c.11697G>C	XP_016866433.1:p.Gln3899His
XM_017010945.2:c.11622G>C	XP_016866434.1:p.Gln3874His
XM_017010946.2:c.11502G>C	XP_016866435.1:p.Gln3834His
XM_017010947.2:c.11433G>C	XP_016866436.1:p.Gln3811His
XM_017010948.2:c.10986G>C	XP_016866437.1:p.Gln3662His
XM_017010949.2:c.9837G>C	XP_016866438.1:p.Gln3279His
NM_138694.4:c.11697G>C MANE Select	NP_619639.3:p.Gln3899His