Canonical Allele Identifier: CA364420759

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51612832T>A (hg19) ; chr6:g.51748034T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748034T>A , CM000668.2:g.51748034T>A	GRCh38
NC_000006.11:g.51612832T>A , CM000668.1:g.51612832T>A	GRCh37
NC_000006.10:g.51720791T>A	NCBI36
NG_008753.1:g.344592A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9582A>T MANE Select	ENSP00000360158.3:p.Lys3194Asn
ENST00000340994.4:c.9582A>T	ENSP00000341097.4:p.Lys3194Asn
ENST00000371117.7:c.9582A>T	ENSP00000360158.3:p.Lys3194Asn
NM_138694.3:c.9582A>T	NP_619639.3:p.Lys3194Asn
NM_170724.2:c.9582A>T	NP_733842.2:p.Lys3194Asn
XM_011514679.1:c.9582A>T	XP_011512981.1:p.Lys3194Asn
XM_011514680.1:c.9582A>T	XP_011512982.1:p.Lys3194Asn
XM_011514681.1:c.9453A>T	XP_011512983.1:p.Lys3151Asn
XM_011514682.1:c.9444A>T	XP_011512984.1:p.Lys3148Asn
XM_011514683.1:c.8940A>T	XP_011512985.1:p.Lys2980Asn
XM_011514684.1:c.8871A>T	XP_011512986.1:p.Lys2957Asn
XM_011514685.1:c.9582A>T	XP_011512987.1:p.Lys3194Asn
XM_011514686.1:c.9582A>T	XP_011512988.1:p.Lys3194Asn
XM_011514687.1:c.9582A>T	XP_011512989.1:p.Lys3194Asn
XM_011514688.1:c.9582A>T	XP_011512990.1:p.Lys3194Asn
XM_011514690.1:c.3657A>T	XP_011512992.1:p.Lys1219Asn
XM_011514691.1:c.3657A>T	XP_011512993.1:p.Lys1219Asn
XM_011514680.3:c.9582A>T	XP_011512982.1:p.Lys3194Asn
XM_011514682.3:c.9444A>T	XP_011512984.1:p.Lys3148Asn
XM_011514683.3:c.8940A>T	XP_011512985.1:p.Lys2980Asn
XM_011514684.3:c.8871A>T	XP_011512986.1:p.Lys2957Asn
XM_011514686.2:c.9582A>T	XP_011512988.1:p.Lys3194Asn
XM_011514688.2:c.9582A>T	XP_011512990.1:p.Lys3194Asn
XM_011514690.3:c.3657A>T	XP_011512992.1:p.Lys1219Asn
XM_011514691.3:c.3657A>T	XP_011512993.1:p.Lys1219Asn
XM_017010944.2:c.9582A>T	XP_016866433.1:p.Lys3194Asn
XM_017010945.2:c.9507A>T	XP_016866434.1:p.Lys3169Asn
XM_017010946.2:c.9387A>T	XP_016866435.1:p.Lys3129Asn
XM_017010947.2:c.9318A>T	XP_016866436.1:p.Lys3106Asn
XM_017010948.2:c.8871A>T	XP_016866437.1:p.Lys2957Asn
XM_017010949.2:c.7722A>T	XP_016866438.1:p.Lys2574Asn
XM_017010950.1:c.9582A>T	XP_016866439.1:p.Lys3194Asn
XR_001743469.1:n.9858A>T
NM_138694.4:c.9582A>T MANE Select	NP_619639.3:p.Lys3194Asn
NM_170724.3:c.9582A>T	NP_733842.2:p.Lys3194Asn