Canonical Allele Identifier: CA364424302

Gene: PKHD1

Linked Data

• dbSNP Id: rs886061614
• gnomAD v2: 6-51613425-C-A
• MyVariant Identifiers: chr6:g.51613425C>A (hg19) ; chr6:g.51748627C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748627C>A , CM000668.2:g.51748627C>A	GRCh38
NC_000006.11:g.51613425C>A , CM000668.1:g.51613425C>A	GRCh37
NC_000006.10:g.51721384C>A	NCBI36
NG_008753.1:g.343999G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.8989G>T MANE Select	ENSP00000360158.3:p.Gly2997Trp
ENST00000340994.4:c.8989G>T	ENSP00000341097.4:p.Gly2997Trp
ENST00000371117.7:c.8989G>T	ENSP00000360158.3:p.Gly2997Trp
NM_138694.3:c.8989G>T	NP_619639.3:p.Gly2997Trp
NM_170724.2:c.8989G>T	NP_733842.2:p.Gly2997Trp
XM_011514679.1:c.8989G>T	XP_011512981.1:p.Gly2997Trp
XM_011514680.1:c.8989G>T	XP_011512982.1:p.Gly2997Trp
XM_011514681.1:c.8860G>T	XP_011512983.1:p.Gly2954Trp
XM_011514682.1:c.8851G>T	XP_011512984.1:p.Gly2951Trp
XM_011514683.1:c.8347G>T	XP_011512985.1:p.Gly2783Trp
XM_011514684.1:c.8278G>T	XP_011512986.1:p.Gly2760Trp
XM_011514685.1:c.8989G>T	XP_011512987.1:p.Gly2997Trp
XM_011514686.1:c.8989G>T	XP_011512988.1:p.Gly2997Trp
XM_011514687.1:c.8989G>T	XP_011512989.1:p.Gly2997Trp
XM_011514688.1:c.8989G>T	XP_011512990.1:p.Gly2997Trp
XM_011514690.1:c.3064G>T	XP_011512992.1:p.Gly1022Trp
XM_011514691.1:c.3064G>T	XP_011512993.1:p.Gly1022Trp
XM_011514680.3:c.8989G>T	XP_011512982.1:p.Gly2997Trp
XM_011514682.3:c.8851G>T	XP_011512984.1:p.Gly2951Trp
XM_011514683.3:c.8347G>T	XP_011512985.1:p.Gly2783Trp
XM_011514684.3:c.8278G>T	XP_011512986.1:p.Gly2760Trp
XM_011514686.2:c.8989G>T	XP_011512988.1:p.Gly2997Trp
XM_011514688.2:c.8989G>T	XP_011512990.1:p.Gly2997Trp
XM_011514690.3:c.3064G>T	XP_011512992.1:p.Gly1022Trp
XM_011514691.3:c.3064G>T	XP_011512993.1:p.Gly1022Trp
XM_017010944.2:c.8989G>T	XP_016866433.1:p.Gly2997Trp
XM_017010945.2:c.8914G>T	XP_016866434.1:p.Gly2972Trp
XM_017010946.2:c.8794G>T	XP_016866435.1:p.Gly2932Trp
XM_017010947.2:c.8725G>T	XP_016866436.1:p.Gly2909Trp
XM_017010948.2:c.8278G>T	XP_016866437.1:p.Gly2760Trp
XM_017010949.2:c.7129G>T	XP_016866438.1:p.Gly2377Trp
XM_017010950.1:c.8989G>T	XP_016866439.1:p.Gly2997Trp
XR_001743469.1:n.9265G>T
NM_138694.4:c.8989G>T MANE Select	NP_619639.3:p.Gly2997Trp
NM_170724.3:c.8989G>T	NP_733842.2:p.Gly2997Trp