Canonical Allele Identifier: CA138898192

Gene: PKHD1

Linked Data

• dbSNP Id: rs966478274
• gnomAD v3: 6-51883022-T-A
• gnomAD v4: 6-51883022-T-A
• MyVariant Identifiers: chr6:g.51747820T>A (hg19) ; chr6:g.51883022T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51883022T>A , CM000668.2:g.51883022T>A	GRCh38
NC_000006.11:g.51747820T>A , CM000668.1:g.51747820T>A	GRCh37
NC_000006.10:g.51855779T>A	NCBI36
NG_008753.1:g.209604A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.7350+71A>T MANE Select	ENSP00000360158.3:n.7350+71A>T
ENST00000340994.4:c.7350+71A>T	ENSP00000341097.4:n.7350+71A>T
ENST00000371117.7:c.7350+71A>T	ENSP00000360158.3:n.7350+71A>T
NM_138694.3:c.7350+71A>T	NP_619639.3:n.7350+71A>T
NM_170724.2:c.7350+71A>T	NP_733842.2:n.7350+71A>T
XM_011514679.1:c.7350+71A>T	XP_011512981.1:n.7350+71A>T
XM_011514680.1:c.7350+71A>T	XP_011512982.1:n.7350+71A>T
XM_011514681.1:c.7350+71A>T	XP_011512983.1:n.7350+71A>T
XM_011514682.1:c.7350+71A>T	XP_011512984.1:n.7350+71A>T
XM_011514683.1:c.6708+71A>T	XP_011512985.1:n.6708+71A>T
XM_011514684.1:c.6639+71A>T	XP_011512986.1:n.6639+71A>T
XM_011514685.1:c.7350+71A>T	XP_011512987.1:n.7350+71A>T
XM_011514686.1:c.7350+71A>T	XP_011512988.1:n.7350+71A>T
XM_011514687.1:c.7350+71A>T	XP_011512989.1:n.7350+71A>T
XM_011514688.1:c.7350+71A>T	XP_011512990.1:n.7350+71A>T
XM_011514689.1:c.7350+71A>T	XP_011512991.1:n.7350+71A>T
XM_011514690.1:c.1425+71A>T	XP_011512992.1:n.1425+71A>T
XM_011514691.1:c.1425+71A>T	XP_011512993.1:n.1425+71A>T
XM_011514680.3:c.7350+71A>T	XP_011512982.1:n.7350+71A>T
XM_011514682.3:c.7350+71A>T	XP_011512984.1:n.7350+71A>T
XM_011514683.3:c.6708+71A>T	XP_011512985.1:n.6708+71A>T
XM_011514684.3:c.6639+71A>T	XP_011512986.1:n.6639+71A>T
XM_011514686.2:c.7350+71A>T	XP_011512988.1:n.7350+71A>T
XM_011514688.2:c.7350+71A>T	XP_011512990.1:n.7350+71A>T
XM_011514690.3:c.1425+71A>T	XP_011512992.1:n.1425+71A>T
XM_011514691.3:c.1425+71A>T	XP_011512993.1:n.1425+71A>T
XM_017010944.2:c.7350+71A>T	XP_016866433.1:n.7350+71A>T
XM_017010945.2:c.7275+71A>T	XP_016866434.1:n.7275+71A>T
XM_017010946.2:c.7350+71A>T	XP_016866435.1:n.7350+71A>T
XM_017010947.2:c.7086+71A>T	XP_016866436.1:n.7086+71A>T
XM_017010948.2:c.6639+71A>T	XP_016866437.1:n.6639+71A>T
XM_017010949.2:c.5490+71A>T	XP_016866438.1:n.5490+71A>T
XM_017010950.1:c.7350+71A>T	XP_016866439.1:n.7350+71A>T
XM_017010951.1:c.7350+71A>T	XP_016866440.1:n.7350+71A>T
XM_017010952.1:c.7350+71A>T	XP_016866441.1:n.7350+71A>T
XR_001743469.1:n.7626+71A>T
NM_138694.4:c.7350+71A>T MANE Select	NP_619639.3:n.7350+71A>T
NM_170724.3:c.7350+71A>T	NP_733842.2:n.7350+71A>T