Canonical Allele Identifier: CA364424424

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51613445T>A (hg19) ; chr6:g.51748647T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748647T>A , CM000668.2:g.51748647T>A	GRCh38
NC_000006.11:g.51613445T>A , CM000668.1:g.51613445T>A	GRCh37
NC_000006.10:g.51721404T>A	NCBI36
NG_008753.1:g.343979A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.8969A>T MANE Select	ENSP00000360158.3:p.Asn2990Ile
ENST00000340994.4:c.8969A>T	ENSP00000341097.4:p.Asn2990Ile
ENST00000371117.7:c.8969A>T	ENSP00000360158.3:p.Asn2990Ile
NM_138694.3:c.8969A>T	NP_619639.3:p.Asn2990Ile
NM_170724.2:c.8969A>T	NP_733842.2:p.Asn2990Ile
XM_011514679.1:c.8969A>T	XP_011512981.1:p.Asn2990Ile
XM_011514680.1:c.8969A>T	XP_011512982.1:p.Asn2990Ile
XM_011514681.1:c.8840A>T	XP_011512983.1:p.Asn2947Ile
XM_011514682.1:c.8831A>T	XP_011512984.1:p.Asn2944Ile
XM_011514683.1:c.8327A>T	XP_011512985.1:p.Asn2776Ile
XM_011514684.1:c.8258A>T	XP_011512986.1:p.Asn2753Ile
XM_011514685.1:c.8969A>T	XP_011512987.1:p.Asn2990Ile
XM_011514686.1:c.8969A>T	XP_011512988.1:p.Asn2990Ile
XM_011514687.1:c.8969A>T	XP_011512989.1:p.Asn2990Ile
XM_011514688.1:c.8969A>T	XP_011512990.1:p.Asn2990Ile
XM_011514690.1:c.3044A>T	XP_011512992.1:p.Asn1015Ile
XM_011514691.1:c.3044A>T	XP_011512993.1:p.Asn1015Ile
XM_011514680.3:c.8969A>T	XP_011512982.1:p.Asn2990Ile
XM_011514682.3:c.8831A>T	XP_011512984.1:p.Asn2944Ile
XM_011514683.3:c.8327A>T	XP_011512985.1:p.Asn2776Ile
XM_011514684.3:c.8258A>T	XP_011512986.1:p.Asn2753Ile
XM_011514686.2:c.8969A>T	XP_011512988.1:p.Asn2990Ile
XM_011514688.2:c.8969A>T	XP_011512990.1:p.Asn2990Ile
XM_011514690.3:c.3044A>T	XP_011512992.1:p.Asn1015Ile
XM_011514691.3:c.3044A>T	XP_011512993.1:p.Asn1015Ile
XM_017010944.2:c.8969A>T	XP_016866433.1:p.Asn2990Ile
XM_017010945.2:c.8894A>T	XP_016866434.1:p.Asn2965Ile
XM_017010946.2:c.8774A>T	XP_016866435.1:p.Asn2925Ile
XM_017010947.2:c.8705A>T	XP_016866436.1:p.Asn2902Ile
XM_017010948.2:c.8258A>T	XP_016866437.1:p.Asn2753Ile
XM_017010949.2:c.7109A>T	XP_016866438.1:p.Asn2370Ile
XM_017010950.1:c.8969A>T	XP_016866439.1:p.Asn2990Ile
XR_001743469.1:n.9245A>T
NM_138694.4:c.8969A>T MANE Select	NP_619639.3:p.Asn2990Ile
NM_170724.3:c.8969A>T	NP_733842.2:p.Asn2990Ile