Canonical Allele Identifier: CA364418683

Gene: PKHD1

Linked Data

• dbSNP Id: rs2661487
• gnomAD v3: 6-51627044-C-A
• gnomAD v4: 6-51627044-C-A
• MyVariant Identifiers: chr6:g.51491842C>A (hg19) ; chr6:g.51627044C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627044C>A , CM000668.2:g.51627044C>A	GRCh38
NC_000006.11:g.51491842C>A , CM000668.1:g.51491842C>A	GRCh37
NC_000006.10:g.51599801C>A	NCBI36
NG_008753.1:g.465582G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11738G>T MANE Select	ENSP00000360158.3:p.Arg3913Leu
ENST00000371117.7:c.11738G>T	ENSP00000360158.3:p.Arg3913Leu
NM_138694.3:c.11738G>T	NP_619639.3:p.Arg3913Leu
XM_011514679.1:c.11738G>T	XP_011512981.1:p.Arg3913Leu
XM_011514680.1:c.11738G>T	XP_011512982.1:p.Arg3913Leu
XM_011514681.1:c.11609G>T	XP_011512983.1:p.Arg3870Leu
XM_011514682.1:c.11600G>T	XP_011512984.1:p.Arg3867Leu
XM_011514683.1:c.11096G>T	XP_011512985.1:p.Arg3699Leu
XM_011514684.1:c.11027G>T	XP_011512986.1:p.Arg3676Leu
XM_011514690.1:c.5813G>T	XP_011512992.1:p.Arg1938Leu
XM_011514691.1:c.5813G>T	XP_011512993.1:p.Arg1938Leu
XM_011514680.3:c.11738G>T	XP_011512982.1:p.Arg3913Leu
XM_011514682.3:c.11600G>T	XP_011512984.1:p.Arg3867Leu
XM_011514683.3:c.11096G>T	XP_011512985.1:p.Arg3699Leu
XM_011514684.3:c.11027G>T	XP_011512986.1:p.Arg3676Leu
XM_011514690.3:c.5813G>T	XP_011512992.1:p.Arg1938Leu
XM_011514691.3:c.5813G>T	XP_011512993.1:p.Arg1938Leu
XM_017010944.2:c.11738G>T	XP_016866433.1:p.Arg3913Leu
XM_017010945.2:c.11663G>T	XP_016866434.1:p.Arg3888Leu
XM_017010946.2:c.11543G>T	XP_016866435.1:p.Arg3848Leu
XM_017010947.2:c.11474G>T	XP_016866436.1:p.Arg3825Leu
XM_017010948.2:c.11027G>T	XP_016866437.1:p.Arg3676Leu
XM_017010949.2:c.9878G>T	XP_016866438.1:p.Arg3293Leu
NM_138694.4:c.11738G>T MANE Select	NP_619639.3:p.Arg3913Leu