Canonical Allele Identifier: CA364418775

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51491854A>G (hg19) ; chr6:g.51627056A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51627056A>G , CM000668.2:g.51627056A>G	GRCh38
NC_000006.11:g.51491854A>G , CM000668.1:g.51491854A>G	GRCh37
NC_000006.10:g.51599813A>G	NCBI36
NG_008753.1:g.465570T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.11726T>C MANE Select	ENSP00000360158.3:p.Ile3909Thr
ENST00000371117.7:c.11726T>C	ENSP00000360158.3:p.Ile3909Thr
NM_138694.3:c.11726T>C	NP_619639.3:p.Ile3909Thr
XM_011514679.1:c.11726T>C	XP_011512981.1:p.Ile3909Thr
XM_011514680.1:c.11726T>C	XP_011512982.1:p.Ile3909Thr
XM_011514681.1:c.11597T>C	XP_011512983.1:p.Ile3866Thr
XM_011514682.1:c.11588T>C	XP_011512984.1:p.Ile3863Thr
XM_011514683.1:c.11084T>C	XP_011512985.1:p.Ile3695Thr
XM_011514684.1:c.11015T>C	XP_011512986.1:p.Ile3672Thr
XM_011514690.1:c.5801T>C	XP_011512992.1:p.Ile1934Thr
XM_011514691.1:c.5801T>C	XP_011512993.1:p.Ile1934Thr
XM_011514680.3:c.11726T>C	XP_011512982.1:p.Ile3909Thr
XM_011514682.3:c.11588T>C	XP_011512984.1:p.Ile3863Thr
XM_011514683.3:c.11084T>C	XP_011512985.1:p.Ile3695Thr
XM_011514684.3:c.11015T>C	XP_011512986.1:p.Ile3672Thr
XM_011514690.3:c.5801T>C	XP_011512992.1:p.Ile1934Thr
XM_011514691.3:c.5801T>C	XP_011512993.1:p.Ile1934Thr
XM_017010944.2:c.11726T>C	XP_016866433.1:p.Ile3909Thr
XM_017010945.2:c.11651T>C	XP_016866434.1:p.Ile3884Thr
XM_017010946.2:c.11531T>C	XP_016866435.1:p.Ile3844Thr
XM_017010947.2:c.11462T>C	XP_016866436.1:p.Ile3821Thr
XM_017010948.2:c.11015T>C	XP_016866437.1:p.Ile3672Thr
XM_017010949.2:c.9866T>C	XP_016866438.1:p.Ile3289Thr
NM_138694.4:c.11726T>C MANE Select	NP_619639.3:p.Ile3909Thr