Canonical Allele Identifier: CA364418894

Gene: PKHD1

Linked Data

• gnomAD v4: 6-51627084-T-C
• MyVariant Identifiers: chr6:g.51491882T>C (hg19) ; chr6:g.51627084T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627084T>C , CM000668.2:g.51627084T>C	GRCh38
NC_000006.11:g.51491882T>C , CM000668.1:g.51491882T>C	GRCh37
NC_000006.10:g.51599841T>C	NCBI36
NG_008753.1:g.465542A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11698A>G MANE Select	ENSP00000360158.3:p.Thr3900Ala
ENST00000371117.7:c.11698A>G	ENSP00000360158.3:p.Thr3900Ala
NM_138694.3:c.11698A>G	NP_619639.3:p.Thr3900Ala
XM_011514679.1:c.11698A>G	XP_011512981.1:p.Thr3900Ala
XM_011514680.1:c.11698A>G	XP_011512982.1:p.Thr3900Ala
XM_011514681.1:c.11569A>G	XP_011512983.1:p.Thr3857Ala
XM_011514682.1:c.11560A>G	XP_011512984.1:p.Thr3854Ala
XM_011514683.1:c.11056A>G	XP_011512985.1:p.Thr3686Ala
XM_011514684.1:c.10987A>G	XP_011512986.1:p.Thr3663Ala
XM_011514690.1:c.5773A>G	XP_011512992.1:p.Thr1925Ala
XM_011514691.1:c.5773A>G	XP_011512993.1:p.Thr1925Ala
XM_011514680.3:c.11698A>G	XP_011512982.1:p.Thr3900Ala
XM_011514682.3:c.11560A>G	XP_011512984.1:p.Thr3854Ala
XM_011514683.3:c.11056A>G	XP_011512985.1:p.Thr3686Ala
XM_011514684.3:c.10987A>G	XP_011512986.1:p.Thr3663Ala
XM_011514690.3:c.5773A>G	XP_011512992.1:p.Thr1925Ala
XM_011514691.3:c.5773A>G	XP_011512993.1:p.Thr1925Ala
XM_017010944.2:c.11698A>G	XP_016866433.1:p.Thr3900Ala
XM_017010945.2:c.11623A>G	XP_016866434.1:p.Thr3875Ala
XM_017010946.2:c.11503A>G	XP_016866435.1:p.Thr3835Ala
XM_017010947.2:c.11434A>G	XP_016866436.1:p.Thr3812Ala
XM_017010948.2:c.10987A>G	XP_016866437.1:p.Thr3663Ala
XM_017010949.2:c.9838A>G	XP_016866438.1:p.Thr3280Ala
NM_138694.4:c.11698A>G MANE Select	NP_619639.3:p.Thr3900Ala