Canonical Allele Identifier: CA364433528

Gene: PKHD1

Linked Data

• dbSNP Id: rs1347730035
• gnomAD v2: 6-51935843-G-T
• gnomAD v4: 6-52071045-G-T
• MyVariant Identifiers: chr6:g.51935843G>T (hg19) ; chr6:g.52071045G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52071045G>T , CM000668.2:g.52071045G>T	GRCh38
NC_000006.11:g.51935843G>T , CM000668.1:g.51935843G>T	GRCh37
NC_000006.10:g.52043802G>T	NCBI36
NG_008753.1:g.21581C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.628C>A MANE Select	ENSP00000360158.3:p.Leu210Ile
ENST00000340994.4:c.628C>A	ENSP00000341097.4:p.Leu210Ile
ENST00000371117.7:c.628C>A	ENSP00000360158.3:p.Leu210Ile
NM_138694.3:c.628C>A	NP_619639.3:p.Leu210Ile
NM_170724.2:c.628C>A	NP_733842.2:p.Leu210Ile
XM_011514679.1:c.628C>A	XP_011512981.1:p.Leu210Ile
XM_011514680.1:c.628C>A	XP_011512982.1:p.Leu210Ile
XM_011514681.1:c.628C>A	XP_011512983.1:p.Leu210Ile
XM_011514682.1:c.628C>A	XP_011512984.1:p.Leu210Ile
XM_011514683.1:c.628C>A	XP_011512985.1:p.Leu210Ile
XM_011514685.1:c.628C>A	XP_011512987.1:p.Leu210Ile
XM_011514686.1:c.628C>A	XP_011512988.1:p.Leu210Ile
XM_011514687.1:c.628C>A	XP_011512989.1:p.Leu210Ile
XM_011514688.1:c.628C>A	XP_011512990.1:p.Leu210Ile
XM_011514689.1:c.628C>A	XP_011512991.1:p.Leu210Ile
XR_926869.1:n.431G>T
XM_011514680.3:c.628C>A	XP_011512982.1:p.Leu210Ile
XM_011514682.3:c.628C>A	XP_011512984.1:p.Leu210Ile
XM_011514683.3:c.628C>A	XP_011512985.1:p.Leu210Ile
XM_011514684.3:c.-97C>A	XP_011512986.1:n.-97C>A
XM_011514686.2:c.628C>A	XP_011512988.1:p.Leu210Ile
XM_011514688.2:c.628C>A	XP_011512990.1:p.Leu210Ile
XM_017010944.2:c.628C>A	XP_016866433.1:p.Leu210Ile
XM_017010945.2:c.553C>A	XP_016866434.1:p.Leu185Ile
XM_017010946.2:c.628C>A	XP_016866435.1:p.Leu210Ile
XM_017010947.2:c.628C>A	XP_016866436.1:p.Leu210Ile
XM_017010950.1:c.628C>A	XP_016866439.1:p.Leu210Ile
XM_017010951.1:c.628C>A	XP_016866440.1:p.Leu210Ile
XM_017010952.1:c.628C>A	XP_016866441.1:p.Leu210Ile
XR_001743469.1:n.904C>A
NM_138694.4:c.628C>A MANE Select	NP_619639.3:p.Leu210Ile
NM_170724.3:c.628C>A	NP_733842.2:p.Leu210Ile