Canonical Allele Identifier: CA364427183

Gene: PKHD1

Linked Data

• dbSNP Id: rs1427843169
• gnomAD v2: 6-51618128-C-T
• gnomAD v4: 6-51753330-C-T
• COSMIC: COSM742599 ; COSM1150422
• MyVariant Identifiers: chr6:g.51618128C>T (hg19) ; chr6:g.51753330C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51753330C>T , CM000668.2:g.51753330C>T	GRCh38
NC_000006.11:g.51618128C>T , CM000668.1:g.51618128C>T	GRCh37
NC_000006.10:g.51726087C>T	NCBI36
NG_008753.1:g.339296G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.8821G>A MANE Select	ENSP00000360158.3:p.Gly2941Ser
ENST00000340994.4:c.8821G>A	ENSP00000341097.4:p.Gly2941Ser
ENST00000371117.7:c.8821G>A	ENSP00000360158.3:p.Gly2941Ser
NM_138694.3:c.8821G>A	NP_619639.3:p.Gly2941Ser
NM_170724.2:c.8821G>A	NP_733842.2:p.Gly2941Ser
XM_011514679.1:c.8821G>A	XP_011512981.1:p.Gly2941Ser
XM_011514680.1:c.8821G>A	XP_011512982.1:p.Gly2941Ser
XM_011514681.1:c.8692G>A	XP_011512983.1:p.Gly2898Ser
XM_011514682.1:c.8683G>A	XP_011512984.1:p.Gly2895Ser
XM_011514683.1:c.8179G>A	XP_011512985.1:p.Gly2727Ser
XM_011514684.1:c.8110G>A	XP_011512986.1:p.Gly2704Ser
XM_011514685.1:c.8821G>A	XP_011512987.1:p.Gly2941Ser
XM_011514686.1:c.8821G>A	XP_011512988.1:p.Gly2941Ser
XM_011514687.1:c.8821G>A	XP_011512989.1:p.Gly2941Ser
XM_011514688.1:c.8821G>A	XP_011512990.1:p.Gly2941Ser
XM_011514690.1:c.2896G>A	XP_011512992.1:p.Gly966Ser
XM_011514691.1:c.2896G>A	XP_011512993.1:p.Gly966Ser
XM_011514680.3:c.8821G>A	XP_011512982.1:p.Gly2941Ser
XM_011514682.3:c.8683G>A	XP_011512984.1:p.Gly2895Ser
XM_011514683.3:c.8179G>A	XP_011512985.1:p.Gly2727Ser
XM_011514684.3:c.8110G>A	XP_011512986.1:p.Gly2704Ser
XM_011514686.2:c.8821G>A	XP_011512988.1:p.Gly2941Ser
XM_011514688.2:c.8821G>A	XP_011512990.1:p.Gly2941Ser
XM_011514690.3:c.2896G>A	XP_011512992.1:p.Gly966Ser
XM_011514691.3:c.2896G>A	XP_011512993.1:p.Gly966Ser
XM_017010944.2:c.8821G>A	XP_016866433.1:p.Gly2941Ser
XM_017010945.2:c.8746G>A	XP_016866434.1:p.Gly2916Ser
XM_017010946.2:c.8626G>A	XP_016866435.1:p.Gly2876Ser
XM_017010947.2:c.8557G>A	XP_016866436.1:p.Gly2853Ser
XM_017010948.2:c.8110G>A	XP_016866437.1:p.Gly2704Ser
XM_017010949.2:c.6961G>A	XP_016866438.1:p.Gly2321Ser
XM_017010950.1:c.8821G>A	XP_016866439.1:p.Gly2941Ser
XM_017010951.1:c.*1425G>A	XP_016866440.1:n.*1425G>A
XR_001743469.1:n.9097G>A
NM_138694.4:c.8821G>A MANE Select	NP_619639.3:p.Gly2941Ser
NM_170724.3:c.8821G>A	NP_733842.2:p.Gly2941Ser