Canonical Allele Identifier: CA364424083

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51613367A>T (hg19) ; chr6:g.51748569A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748569A>T , CM000668.2:g.51748569A>T	GRCh38
NC_000006.11:g.51613367A>T , CM000668.1:g.51613367A>T	GRCh37
NC_000006.10:g.51721326A>T	NCBI36
NG_008753.1:g.344057T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.9047T>A MANE Select	ENSP00000360158.3:p.Ile3016Lys
ENST00000340994.4:c.9047T>A	ENSP00000341097.4:p.Ile3016Lys
ENST00000371117.7:c.9047T>A	ENSP00000360158.3:p.Ile3016Lys
NM_138694.3:c.9047T>A	NP_619639.3:p.Ile3016Lys
NM_170724.2:c.9047T>A	NP_733842.2:p.Ile3016Lys
XM_011514679.1:c.9047T>A	XP_011512981.1:p.Ile3016Lys
XM_011514680.1:c.9047T>A	XP_011512982.1:p.Ile3016Lys
XM_011514681.1:c.8918T>A	XP_011512983.1:p.Ile2973Lys
XM_011514682.1:c.8909T>A	XP_011512984.1:p.Ile2970Lys
XM_011514683.1:c.8405T>A	XP_011512985.1:p.Ile2802Lys
XM_011514684.1:c.8336T>A	XP_011512986.1:p.Ile2779Lys
XM_011514685.1:c.9047T>A	XP_011512987.1:p.Ile3016Lys
XM_011514686.1:c.9047T>A	XP_011512988.1:p.Ile3016Lys
XM_011514687.1:c.9047T>A	XP_011512989.1:p.Ile3016Lys
XM_011514688.1:c.9047T>A	XP_011512990.1:p.Ile3016Lys
XM_011514690.1:c.3122T>A	XP_011512992.1:p.Ile1041Lys
XM_011514691.1:c.3122T>A	XP_011512993.1:p.Ile1041Lys
XM_011514680.3:c.9047T>A	XP_011512982.1:p.Ile3016Lys
XM_011514682.3:c.8909T>A	XP_011512984.1:p.Ile2970Lys
XM_011514683.3:c.8405T>A	XP_011512985.1:p.Ile2802Lys
XM_011514684.3:c.8336T>A	XP_011512986.1:p.Ile2779Lys
XM_011514686.2:c.9047T>A	XP_011512988.1:p.Ile3016Lys
XM_011514688.2:c.9047T>A	XP_011512990.1:p.Ile3016Lys
XM_011514690.3:c.3122T>A	XP_011512992.1:p.Ile1041Lys
XM_011514691.3:c.3122T>A	XP_011512993.1:p.Ile1041Lys
XM_017010944.2:c.9047T>A	XP_016866433.1:p.Ile3016Lys
XM_017010945.2:c.8972T>A	XP_016866434.1:p.Ile2991Lys
XM_017010946.2:c.8852T>A	XP_016866435.1:p.Ile2951Lys
XM_017010947.2:c.8783T>A	XP_016866436.1:p.Ile2928Lys
XM_017010948.2:c.8336T>A	XP_016866437.1:p.Ile2779Lys
XM_017010949.2:c.7187T>A	XP_016866438.1:p.Ile2396Lys
XM_017010950.1:c.9047T>A	XP_016866439.1:p.Ile3016Lys
XR_001743469.1:n.9323T>A
NM_138694.4:c.9047T>A MANE Select	NP_619639.3:p.Ile3016Lys
NM_170724.3:c.9047T>A	NP_733842.2:p.Ile3016Lys