Canonical Allele Identifier: CA2679080206

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51883017-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51883017C>T , CM000668.2:g.51883017C>T	GRCh38
NC_000006.11:g.51747815C>T , CM000668.1:g.51747815C>T	GRCh37
NC_000006.10:g.51855774C>T	NCBI36
NG_008753.1:g.209609G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.7350+76G>A MANE Select	ENSP00000360158.3:n.7350+76G>A
ENST00000340994.4:c.7350+76G>A	ENSP00000341097.4:n.7350+76G>A
ENST00000371117.7:c.7350+76G>A	ENSP00000360158.3:n.7350+76G>A
NM_138694.3:c.7350+76G>A	NP_619639.3:n.7350+76G>A
NM_170724.2:c.7350+76G>A	NP_733842.2:n.7350+76G>A
XM_011514679.1:c.7350+76G>A	XP_011512981.1:n.7350+76G>A
XM_011514680.1:c.7350+76G>A	XP_011512982.1:n.7350+76G>A
XM_011514681.1:c.7350+76G>A	XP_011512983.1:n.7350+76G>A
XM_011514682.1:c.7350+76G>A	XP_011512984.1:n.7350+76G>A
XM_011514683.1:c.6708+76G>A	XP_011512985.1:n.6708+76G>A
XM_011514684.1:c.6639+76G>A	XP_011512986.1:n.6639+76G>A
XM_011514685.1:c.7350+76G>A	XP_011512987.1:n.7350+76G>A
XM_011514686.1:c.7350+76G>A	XP_011512988.1:n.7350+76G>A
XM_011514687.1:c.7350+76G>A	XP_011512989.1:n.7350+76G>A
XM_011514688.1:c.7350+76G>A	XP_011512990.1:n.7350+76G>A
XM_011514689.1:c.7350+76G>A	XP_011512991.1:n.7350+76G>A
XM_011514690.1:c.1425+76G>A	XP_011512992.1:n.1425+76G>A
XM_011514691.1:c.1425+76G>A	XP_011512993.1:n.1425+76G>A
XM_011514680.3:c.7350+76G>A	XP_011512982.1:n.7350+76G>A
XM_011514682.3:c.7350+76G>A	XP_011512984.1:n.7350+76G>A
XM_011514683.3:c.6708+76G>A	XP_011512985.1:n.6708+76G>A
XM_011514684.3:c.6639+76G>A	XP_011512986.1:n.6639+76G>A
XM_011514686.2:c.7350+76G>A	XP_011512988.1:n.7350+76G>A
XM_011514688.2:c.7350+76G>A	XP_011512990.1:n.7350+76G>A
XM_011514690.3:c.1425+76G>A	XP_011512992.1:n.1425+76G>A
XM_011514691.3:c.1425+76G>A	XP_011512993.1:n.1425+76G>A
XM_017010944.2:c.7350+76G>A	XP_016866433.1:n.7350+76G>A
XM_017010945.2:c.7275+76G>A	XP_016866434.1:n.7275+76G>A
XM_017010946.2:c.7350+76G>A	XP_016866435.1:n.7350+76G>A
XM_017010947.2:c.7086+76G>A	XP_016866436.1:n.7086+76G>A
XM_017010948.2:c.6639+76G>A	XP_016866437.1:n.6639+76G>A
XM_017010949.2:c.5490+76G>A	XP_016866438.1:n.5490+76G>A
XM_017010950.1:c.7350+76G>A	XP_016866439.1:n.7350+76G>A
XM_017010951.1:c.7350+76G>A	XP_016866440.1:n.7350+76G>A
XM_017010952.1:c.7350+76G>A	XP_016866441.1:n.7350+76G>A
XR_001743469.1:n.7626+76G>A
NM_138694.4:c.7350+76G>A MANE Select	NP_619639.3:n.7350+76G>A
NM_170724.3:c.7350+76G>A	NP_733842.2:n.7350+76G>A