Canonical Allele Identifier: CA364437527

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51659943-T-A
• MyVariant Identifiers: chr6:g.51524741T>A (hg19) ; chr6:g.51659943T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51659943T>A , CM000668.2:g.51659943T>A	GRCh38
NC_000006.11:g.51524741T>A , CM000668.1:g.51524741T>A	GRCh37
NC_000006.10:g.51632700T>A	NCBI36
NG_008753.1:g.432683A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.10183A>T MANE Select	ENSP00000360158.3:p.Thr3395Ser
ENST00000371117.7:c.10183A>T	ENSP00000360158.3:p.Thr3395Ser
NM_138694.3:c.10183A>T	NP_619639.3:p.Thr3395Ser
XM_011514679.1:c.10183A>T	XP_011512981.1:p.Thr3395Ser
XM_011514680.1:c.10183A>T	XP_011512982.1:p.Thr3395Ser
XM_011514681.1:c.10054A>T	XP_011512983.1:p.Thr3352Ser
XM_011514682.1:c.10045A>T	XP_011512984.1:p.Thr3349Ser
XM_011514683.1:c.9541A>T	XP_011512985.1:p.Thr3181Ser
XM_011514684.1:c.9472A>T	XP_011512986.1:p.Thr3158Ser
XM_011514687.1:c.10157-10723A>T	XP_011512989.1:n.10157-10723A>T
XM_011514690.1:c.4258A>T	XP_011512992.1:p.Thr1420Ser
XM_011514691.1:c.4258A>T	XP_011512993.1:p.Thr1420Ser
XR_926870.1:n.535+7570T>A
XR_926871.1:n.403+7570T>A
XR_926872.1:n.535+7570T>A
XM_011514680.3:c.10183A>T	XP_011512982.1:p.Thr3395Ser
XM_011514682.3:c.10045A>T	XP_011512984.1:p.Thr3349Ser
XM_011514683.3:c.9541A>T	XP_011512985.1:p.Thr3181Ser
XM_011514684.3:c.9472A>T	XP_011512986.1:p.Thr3158Ser
XM_011514690.3:c.4258A>T	XP_011512992.1:p.Thr1420Ser
XM_011514691.3:c.4258A>T	XP_011512993.1:p.Thr1420Ser
XM_017010944.2:c.10183A>T	XP_016866433.1:p.Thr3395Ser
XM_017010945.2:c.10108A>T	XP_016866434.1:p.Thr3370Ser
XM_017010946.2:c.9988A>T	XP_016866435.1:p.Thr3330Ser
XM_017010947.2:c.9919A>T	XP_016866436.1:p.Thr3307Ser
XM_017010948.2:c.9472A>T	XP_016866437.1:p.Thr3158Ser
XM_017010949.2:c.8323A>T	XP_016866438.1:p.Thr2775Ser
XR_001743469.1:n.10459A>T
XR_001744157.1:n.3145+7570T>A
XR_926870.2:n.3145+7570T>A
XR_926871.2:n.3013+7570T>A
XR_926872.2:n.3145+7570T>A
NM_138694.4:c.10183A>T MANE Select	NP_619639.3:p.Thr3395Ser