Canonical Allele Identifier: CA364418831

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51627068-A-G
• MyVariant Identifiers: chr6:g.51491866A>G (hg19) ; chr6:g.51627068A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627068A>G , CM000668.2:g.51627068A>G	GRCh38
NC_000006.11:g.51491866A>G , CM000668.1:g.51491866A>G	GRCh37
NC_000006.10:g.51599825A>G	NCBI36
NG_008753.1:g.465558T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11714T>C MANE Select	ENSP00000360158.3:p.Ile3905Thr
ENST00000371117.7:c.11714T>C	ENSP00000360158.3:p.Ile3905Thr
NM_138694.3:c.11714T>C	NP_619639.3:p.Ile3905Thr
XM_011514679.1:c.11714T>C	XP_011512981.1:p.Ile3905Thr
XM_011514680.1:c.11714T>C	XP_011512982.1:p.Ile3905Thr
XM_011514681.1:c.11585T>C	XP_011512983.1:p.Ile3862Thr
XM_011514682.1:c.11576T>C	XP_011512984.1:p.Ile3859Thr
XM_011514683.1:c.11072T>C	XP_011512985.1:p.Ile3691Thr
XM_011514684.1:c.11003T>C	XP_011512986.1:p.Ile3668Thr
XM_011514690.1:c.5789T>C	XP_011512992.1:p.Ile1930Thr
XM_011514691.1:c.5789T>C	XP_011512993.1:p.Ile1930Thr
XM_011514680.3:c.11714T>C	XP_011512982.1:p.Ile3905Thr
XM_011514682.3:c.11576T>C	XP_011512984.1:p.Ile3859Thr
XM_011514683.3:c.11072T>C	XP_011512985.1:p.Ile3691Thr
XM_011514684.3:c.11003T>C	XP_011512986.1:p.Ile3668Thr
XM_011514690.3:c.5789T>C	XP_011512992.1:p.Ile1930Thr
XM_011514691.3:c.5789T>C	XP_011512993.1:p.Ile1930Thr
XM_017010944.2:c.11714T>C	XP_016866433.1:p.Ile3905Thr
XM_017010945.2:c.11639T>C	XP_016866434.1:p.Ile3880Thr
XM_017010946.2:c.11519T>C	XP_016866435.1:p.Ile3840Thr
XM_017010947.2:c.11450T>C	XP_016866436.1:p.Ile3817Thr
XM_017010948.2:c.11003T>C	XP_016866437.1:p.Ile3668Thr
XM_017010949.2:c.9854T>C	XP_016866438.1:p.Ile3285Thr
NM_138694.4:c.11714T>C MANE Select	NP_619639.3:p.Ile3905Thr