Canonical Allele Identifier: CA364418743

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51627053-G-A
• MyVariant Identifiers: chr6:g.51491851G>A (hg19) ; chr6:g.51627053G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627053G>A , CM000668.2:g.51627053G>A	GRCh38
NC_000006.11:g.51491851G>A , CM000668.1:g.51491851G>A	GRCh37
NC_000006.10:g.51599810G>A	NCBI36
NG_008753.1:g.465573C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11729C>T MANE Select	ENSP00000360158.3:p.Ser3910Leu
ENST00000371117.7:c.11729C>T	ENSP00000360158.3:p.Ser3910Leu
NM_138694.3:c.11729C>T	NP_619639.3:p.Ser3910Leu
XM_011514679.1:c.11729C>T	XP_011512981.1:p.Ser3910Leu
XM_011514680.1:c.11729C>T	XP_011512982.1:p.Ser3910Leu
XM_011514681.1:c.11600C>T	XP_011512983.1:p.Ser3867Leu
XM_011514682.1:c.11591C>T	XP_011512984.1:p.Ser3864Leu
XM_011514683.1:c.11087C>T	XP_011512985.1:p.Ser3696Leu
XM_011514684.1:c.11018C>T	XP_011512986.1:p.Ser3673Leu
XM_011514690.1:c.5804C>T	XP_011512992.1:p.Ser1935Leu
XM_011514691.1:c.5804C>T	XP_011512993.1:p.Ser1935Leu
XM_011514680.3:c.11729C>T	XP_011512982.1:p.Ser3910Leu
XM_011514682.3:c.11591C>T	XP_011512984.1:p.Ser3864Leu
XM_011514683.3:c.11087C>T	XP_011512985.1:p.Ser3696Leu
XM_011514684.3:c.11018C>T	XP_011512986.1:p.Ser3673Leu
XM_011514690.3:c.5804C>T	XP_011512992.1:p.Ser1935Leu
XM_011514691.3:c.5804C>T	XP_011512993.1:p.Ser1935Leu
XM_017010944.2:c.11729C>T	XP_016866433.1:p.Ser3910Leu
XM_017010945.2:c.11654C>T	XP_016866434.1:p.Ser3885Leu
XM_017010946.2:c.11534C>T	XP_016866435.1:p.Ser3845Leu
XM_017010947.2:c.11465C>T	XP_016866436.1:p.Ser3822Leu
XM_017010948.2:c.11018C>T	XP_016866437.1:p.Ser3673Leu
XM_017010949.2:c.9869C>T	XP_016866438.1:p.Ser3290Leu
NM_138694.4:c.11729C>T MANE Select	NP_619639.3:p.Ser3910Leu