Canonical Allele Identifier: CA364420889

Gene: PKHD1

Linked Data

• dbSNP Id: rs1257306120
• gnomAD v2: 6-51612897-C-T
• gnomAD v4: 6-51748099-C-T
• MyVariant Identifiers: chr6:g.51612897C>T (hg19) ; chr6:g.51748099C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748099C>T , CM000668.2:g.51748099C>T	GRCh38
NC_000006.11:g.51612897C>T , CM000668.1:g.51612897C>T	GRCh37
NC_000006.10:g.51720856C>T	NCBI36
NG_008753.1:g.344527G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9517G>A MANE Select	ENSP00000360158.3:p.Val3173Ile
ENST00000340994.4:c.9517G>A	ENSP00000341097.4:p.Val3173Ile
ENST00000371117.7:c.9517G>A	ENSP00000360158.3:p.Val3173Ile
NM_138694.3:c.9517G>A	NP_619639.3:p.Val3173Ile
NM_170724.2:c.9517G>A	NP_733842.2:p.Val3173Ile
XM_011514679.1:c.9517G>A	XP_011512981.1:p.Val3173Ile
XM_011514680.1:c.9517G>A	XP_011512982.1:p.Val3173Ile
XM_011514681.1:c.9388G>A	XP_011512983.1:p.Val3130Ile
XM_011514682.1:c.9379G>A	XP_011512984.1:p.Val3127Ile
XM_011514683.1:c.8875G>A	XP_011512985.1:p.Val2959Ile
XM_011514684.1:c.8806G>A	XP_011512986.1:p.Val2936Ile
XM_011514685.1:c.9517G>A	XP_011512987.1:p.Val3173Ile
XM_011514686.1:c.9517G>A	XP_011512988.1:p.Val3173Ile
XM_011514687.1:c.9517G>A	XP_011512989.1:p.Val3173Ile
XM_011514688.1:c.9517G>A	XP_011512990.1:p.Val3173Ile
XM_011514690.1:c.3592G>A	XP_011512992.1:p.Val1198Ile
XM_011514691.1:c.3592G>A	XP_011512993.1:p.Val1198Ile
XM_011514680.3:c.9517G>A	XP_011512982.1:p.Val3173Ile
XM_011514682.3:c.9379G>A	XP_011512984.1:p.Val3127Ile
XM_011514683.3:c.8875G>A	XP_011512985.1:p.Val2959Ile
XM_011514684.3:c.8806G>A	XP_011512986.1:p.Val2936Ile
XM_011514686.2:c.9517G>A	XP_011512988.1:p.Val3173Ile
XM_011514688.2:c.9517G>A	XP_011512990.1:p.Val3173Ile
XM_011514690.3:c.3592G>A	XP_011512992.1:p.Val1198Ile
XM_011514691.3:c.3592G>A	XP_011512993.1:p.Val1198Ile
XM_017010944.2:c.9517G>A	XP_016866433.1:p.Val3173Ile
XM_017010945.2:c.9442G>A	XP_016866434.1:p.Val3148Ile
XM_017010946.2:c.9322G>A	XP_016866435.1:p.Val3108Ile
XM_017010947.2:c.9253G>A	XP_016866436.1:p.Val3085Ile
XM_017010948.2:c.8806G>A	XP_016866437.1:p.Val2936Ile
XM_017010949.2:c.7657G>A	XP_016866438.1:p.Val2553Ile
XM_017010950.1:c.9517G>A	XP_016866439.1:p.Val3173Ile
XR_001743469.1:n.9793G>A
NM_138694.4:c.9517G>A MANE Select	NP_619639.3:p.Val3173Ile
NM_170724.3:c.9517G>A	NP_733842.2:p.Val3173Ile