Canonical Allele Identifier: CA364436188

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51524581A>T (hg19) ; chr6:g.51659783A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659783A>T , CM000668.2:g.51659783A>T	GRCh38
NC_000006.11:g.51524581A>T , CM000668.1:g.51524581A>T	GRCh37
NC_000006.10:g.51632540A>T	NCBI36
NG_008753.1:g.432843T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10343T>A MANE Select	ENSP00000360158.3:p.Ile3448Asn
ENST00000371117.7:c.10343T>A	ENSP00000360158.3:p.Ile3448Asn
NM_138694.3:c.10343T>A	NP_619639.3:p.Ile3448Asn
XM_011514679.1:c.10343T>A	XP_011512981.1:p.Ile3448Asn
XM_011514680.1:c.10343T>A	XP_011512982.1:p.Ile3448Asn
XM_011514681.1:c.10214T>A	XP_011512983.1:p.Ile3405Asn
XM_011514682.1:c.10205T>A	XP_011512984.1:p.Ile3402Asn
XM_011514683.1:c.9701T>A	XP_011512985.1:p.Ile3234Asn
XM_011514684.1:c.9632T>A	XP_011512986.1:p.Ile3211Asn
XM_011514687.1:c.10157-10563T>A	XP_011512989.1:n.10157-10563T>A
XM_011514690.1:c.4418T>A	XP_011512992.1:p.Ile1473Asn
XM_011514691.1:c.4418T>A	XP_011512993.1:p.Ile1473Asn
XR_926870.1:n.535+7410A>T
XR_926871.1:n.403+7410A>T
XR_926872.1:n.535+7410A>T
XM_011514680.3:c.10343T>A	XP_011512982.1:p.Ile3448Asn
XM_011514682.3:c.10205T>A	XP_011512984.1:p.Ile3402Asn
XM_011514683.3:c.9701T>A	XP_011512985.1:p.Ile3234Asn
XM_011514684.3:c.9632T>A	XP_011512986.1:p.Ile3211Asn
XM_011514690.3:c.4418T>A	XP_011512992.1:p.Ile1473Asn
XM_011514691.3:c.4418T>A	XP_011512993.1:p.Ile1473Asn
XM_017010944.2:c.10343T>A	XP_016866433.1:p.Ile3448Asn
XM_017010945.2:c.10268T>A	XP_016866434.1:p.Ile3423Asn
XM_017010946.2:c.10148T>A	XP_016866435.1:p.Ile3383Asn
XM_017010947.2:c.10079T>A	XP_016866436.1:p.Ile3360Asn
XM_017010948.2:c.9632T>A	XP_016866437.1:p.Ile3211Asn
XM_017010949.2:c.8483T>A	XP_016866438.1:p.Ile2828Asn
XR_001743469.1:n.10619T>A
XR_001744157.1:n.3145+7410A>T
XR_926870.2:n.3145+7410A>T
XR_926871.2:n.3013+7410A>T
XR_926872.2:n.3145+7410A>T
NM_138694.4:c.10343T>A MANE Select	NP_619639.3:p.Ile3448Asn