Canonical Allele Identifier: CA364421165

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51748221-A-T
• MyVariant Identifiers: chr6:g.51613019A>T (hg19) ; chr6:g.51748221A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748221A>T , CM000668.2:g.51748221A>T	GRCh38
NC_000006.11:g.51613019A>T , CM000668.1:g.51613019A>T	GRCh37
NC_000006.10:g.51720978A>T	NCBI36
NG_008753.1:g.344405T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9395T>A MANE Select	ENSP00000360158.3:p.Leu3132His
ENST00000340994.4:c.9395T>A	ENSP00000341097.4:p.Leu3132His
ENST00000371117.7:c.9395T>A	ENSP00000360158.3:p.Leu3132His
NM_138694.3:c.9395T>A	NP_619639.3:p.Leu3132His
NM_170724.2:c.9395T>A	NP_733842.2:p.Leu3132His
XM_011514679.1:c.9395T>A	XP_011512981.1:p.Leu3132His
XM_011514680.1:c.9395T>A	XP_011512982.1:p.Leu3132His
XM_011514681.1:c.9266T>A	XP_011512983.1:p.Leu3089His
XM_011514682.1:c.9257T>A	XP_011512984.1:p.Leu3086His
XM_011514683.1:c.8753T>A	XP_011512985.1:p.Leu2918His
XM_011514684.1:c.8684T>A	XP_011512986.1:p.Leu2895His
XM_011514685.1:c.9395T>A	XP_011512987.1:p.Leu3132His
XM_011514686.1:c.9395T>A	XP_011512988.1:p.Leu3132His
XM_011514687.1:c.9395T>A	XP_011512989.1:p.Leu3132His
XM_011514688.1:c.9395T>A	XP_011512990.1:p.Leu3132His
XM_011514690.1:c.3470T>A	XP_011512992.1:p.Leu1157His
XM_011514691.1:c.3470T>A	XP_011512993.1:p.Leu1157His
XM_011514680.3:c.9395T>A	XP_011512982.1:p.Leu3132His
XM_011514682.3:c.9257T>A	XP_011512984.1:p.Leu3086His
XM_011514683.3:c.8753T>A	XP_011512985.1:p.Leu2918His
XM_011514684.3:c.8684T>A	XP_011512986.1:p.Leu2895His
XM_011514686.2:c.9395T>A	XP_011512988.1:p.Leu3132His
XM_011514688.2:c.9395T>A	XP_011512990.1:p.Leu3132His
XM_011514690.3:c.3470T>A	XP_011512992.1:p.Leu1157His
XM_011514691.3:c.3470T>A	XP_011512993.1:p.Leu1157His
XM_017010944.2:c.9395T>A	XP_016866433.1:p.Leu3132His
XM_017010945.2:c.9320T>A	XP_016866434.1:p.Leu3107His
XM_017010946.2:c.9200T>A	XP_016866435.1:p.Leu3067His
XM_017010947.2:c.9131T>A	XP_016866436.1:p.Leu3044His
XM_017010948.2:c.8684T>A	XP_016866437.1:p.Leu2895His
XM_017010949.2:c.7535T>A	XP_016866438.1:p.Leu2512His
XM_017010950.1:c.9395T>A	XP_016866439.1:p.Leu3132His
XR_001743469.1:n.9671T>A
NM_138694.4:c.9395T>A MANE Select	NP_619639.3:p.Leu3132His
NM_170724.3:c.9395T>A	NP_733842.2:p.Leu3132His