Canonical Allele Identifier: CA364420571

Gene: PKHD1

Linked Data

• COSMIC: COSM389569
• MyVariant Identifiers: chr6:g.51612744C>T (hg19) ; chr6:g.51747946C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51747946C>T , CM000668.2:g.51747946C>T	GRCh38
NC_000006.11:g.51612744C>T , CM000668.1:g.51612744C>T	GRCh37
NC_000006.10:g.51720703C>T	NCBI36
NG_008753.1:g.344680G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9670G>A MANE Select	ENSP00000360158.3:p.Ala3224Thr
ENST00000340994.4:c.9670G>A	ENSP00000341097.4:p.Ala3224Thr
ENST00000371117.7:c.9670G>A	ENSP00000360158.3:p.Ala3224Thr
NM_138694.3:c.9670G>A	NP_619639.3:p.Ala3224Thr
NM_170724.2:c.9670G>A	NP_733842.2:p.Ala3224Thr
XM_011514679.1:c.9670G>A	XP_011512981.1:p.Ala3224Thr
XM_011514680.1:c.9670G>A	XP_011512982.1:p.Ala3224Thr
XM_011514681.1:c.9541G>A	XP_011512983.1:p.Ala3181Thr
XM_011514682.1:c.9532G>A	XP_011512984.1:p.Ala3178Thr
XM_011514683.1:c.9028G>A	XP_011512985.1:p.Ala3010Thr
XM_011514684.1:c.8959G>A	XP_011512986.1:p.Ala2987Thr
XM_011514685.1:c.9670G>A	XP_011512987.1:p.Ala3224Thr
XM_011514686.1:c.9670G>A	XP_011512988.1:p.Ala3224Thr
XM_011514687.1:c.9670G>A	XP_011512989.1:p.Ala3224Thr
XM_011514688.1:c.9670G>A	XP_011512990.1:p.Ala3224Thr
XM_011514690.1:c.3745G>A	XP_011512992.1:p.Ala1249Thr
XM_011514691.1:c.3745G>A	XP_011512993.1:p.Ala1249Thr
XM_011514680.3:c.9670G>A	XP_011512982.1:p.Ala3224Thr
XM_011514682.3:c.9532G>A	XP_011512984.1:p.Ala3178Thr
XM_011514683.3:c.9028G>A	XP_011512985.1:p.Ala3010Thr
XM_011514684.3:c.8959G>A	XP_011512986.1:p.Ala2987Thr
XM_011514686.2:c.9670G>A	XP_011512988.1:p.Ala3224Thr
XM_011514688.2:c.9670G>A	XP_011512990.1:p.Ala3224Thr
XM_011514690.3:c.3745G>A	XP_011512992.1:p.Ala1249Thr
XM_011514691.3:c.3745G>A	XP_011512993.1:p.Ala1249Thr
XM_017010944.2:c.9670G>A	XP_016866433.1:p.Ala3224Thr
XM_017010945.2:c.9595G>A	XP_016866434.1:p.Ala3199Thr
XM_017010946.2:c.9475G>A	XP_016866435.1:p.Ala3159Thr
XM_017010947.2:c.9406G>A	XP_016866436.1:p.Ala3136Thr
XM_017010948.2:c.8959G>A	XP_016866437.1:p.Ala2987Thr
XM_017010949.2:c.7810G>A	XP_016866438.1:p.Ala2604Thr
XM_017010950.1:c.9670G>A	XP_016866439.1:p.Ala3224Thr
XR_001743469.1:n.9946G>A
NM_138694.4:c.9670G>A MANE Select	NP_619639.3:p.Ala3224Thr
NM_170724.3:c.9670G>A	NP_733842.2:p.Ala3224Thr