Canonical Allele Identifier: CA364422410

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51748336-T-G
• MyVariant Identifiers: chr6:g.51613134T>G (hg19) ; chr6:g.51748336T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748336T>G , CM000668.2:g.51748336T>G	GRCh38
NC_000006.11:g.51613134T>G , CM000668.1:g.51613134T>G	GRCh37
NC_000006.10:g.51721093T>G	NCBI36
NG_008753.1:g.344290A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9280A>C MANE Select	ENSP00000360158.3:p.Asn3094His
ENST00000340994.4:c.9280A>C	ENSP00000341097.4:p.Asn3094His
ENST00000371117.7:c.9280A>C	ENSP00000360158.3:p.Asn3094His
NM_138694.3:c.9280A>C	NP_619639.3:p.Asn3094His
NM_170724.2:c.9280A>C	NP_733842.2:p.Asn3094His
XM_011514679.1:c.9280A>C	XP_011512981.1:p.Asn3094His
XM_011514680.1:c.9280A>C	XP_011512982.1:p.Asn3094His
XM_011514681.1:c.9151A>C	XP_011512983.1:p.Asn3051His
XM_011514682.1:c.9142A>C	XP_011512984.1:p.Asn3048His
XM_011514683.1:c.8638A>C	XP_011512985.1:p.Asn2880His
XM_011514684.1:c.8569A>C	XP_011512986.1:p.Asn2857His
XM_011514685.1:c.9280A>C	XP_011512987.1:p.Asn3094His
XM_011514686.1:c.9280A>C	XP_011512988.1:p.Asn3094His
XM_011514687.1:c.9280A>C	XP_011512989.1:p.Asn3094His
XM_011514688.1:c.9280A>C	XP_011512990.1:p.Asn3094His
XM_011514690.1:c.3355A>C	XP_011512992.1:p.Asn1119His
XM_011514691.1:c.3355A>C	XP_011512993.1:p.Asn1119His
XM_011514680.3:c.9280A>C	XP_011512982.1:p.Asn3094His
XM_011514682.3:c.9142A>C	XP_011512984.1:p.Asn3048His
XM_011514683.3:c.8638A>C	XP_011512985.1:p.Asn2880His
XM_011514684.3:c.8569A>C	XP_011512986.1:p.Asn2857His
XM_011514686.2:c.9280A>C	XP_011512988.1:p.Asn3094His
XM_011514688.2:c.9280A>C	XP_011512990.1:p.Asn3094His
XM_011514690.3:c.3355A>C	XP_011512992.1:p.Asn1119His
XM_011514691.3:c.3355A>C	XP_011512993.1:p.Asn1119His
XM_017010944.2:c.9280A>C	XP_016866433.1:p.Asn3094His
XM_017010945.2:c.9205A>C	XP_016866434.1:p.Asn3069His
XM_017010946.2:c.9085A>C	XP_016866435.1:p.Asn3029His
XM_017010947.2:c.9016A>C	XP_016866436.1:p.Asn3006His
XM_017010948.2:c.8569A>C	XP_016866437.1:p.Asn2857His
XM_017010949.2:c.7420A>C	XP_016866438.1:p.Asn2474His
XM_017010950.1:c.9280A>C	XP_016866439.1:p.Asn3094His
XR_001743469.1:n.9556A>C
NM_138694.4:c.9280A>C MANE Select	NP_619639.3:p.Asn3094His
NM_170724.3:c.9280A>C	NP_733842.2:p.Asn3094His