Canonical Allele Identifier: CA364420855

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 1708331
• ClinVar RCV Id: RCV002287704 ; RCV003502617
• gnomAD v4: 6-51748084-C-A
• MyVariant Identifiers: chr6:g.51612882C>A (hg19) ; chr6:g.51748084C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748084C>A , CM000668.2:g.51748084C>A	GRCh38
NC_000006.11:g.51612882C>A , CM000668.1:g.51612882C>A	GRCh37
NC_000006.10:g.51720841C>A	NCBI36
NG_008753.1:g.344542G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9532G>T MANE Select	ENSP00000360158.3:p.Gly3178Cys
ENST00000340994.4:c.9532G>T	ENSP00000341097.4:p.Gly3178Cys
ENST00000371117.7:c.9532G>T	ENSP00000360158.3:p.Gly3178Cys
NM_138694.3:c.9532G>T	NP_619639.3:p.Gly3178Cys
NM_170724.2:c.9532G>T	NP_733842.2:p.Gly3178Cys
XM_011514679.1:c.9532G>T	XP_011512981.1:p.Gly3178Cys
XM_011514680.1:c.9532G>T	XP_011512982.1:p.Gly3178Cys
XM_011514681.1:c.9403G>T	XP_011512983.1:p.Gly3135Cys
XM_011514682.1:c.9394G>T	XP_011512984.1:p.Gly3132Cys
XM_011514683.1:c.8890G>T	XP_011512985.1:p.Gly2964Cys
XM_011514684.1:c.8821G>T	XP_011512986.1:p.Gly2941Cys
XM_011514685.1:c.9532G>T	XP_011512987.1:p.Gly3178Cys
XM_011514686.1:c.9532G>T	XP_011512988.1:p.Gly3178Cys
XM_011514687.1:c.9532G>T	XP_011512989.1:p.Gly3178Cys
XM_011514688.1:c.9532G>T	XP_011512990.1:p.Gly3178Cys
XM_011514690.1:c.3607G>T	XP_011512992.1:p.Gly1203Cys
XM_011514691.1:c.3607G>T	XP_011512993.1:p.Gly1203Cys
XM_011514680.3:c.9532G>T	XP_011512982.1:p.Gly3178Cys
XM_011514682.3:c.9394G>T	XP_011512984.1:p.Gly3132Cys
XM_011514683.3:c.8890G>T	XP_011512985.1:p.Gly2964Cys
XM_011514684.3:c.8821G>T	XP_011512986.1:p.Gly2941Cys
XM_011514686.2:c.9532G>T	XP_011512988.1:p.Gly3178Cys
XM_011514688.2:c.9532G>T	XP_011512990.1:p.Gly3178Cys
XM_011514690.3:c.3607G>T	XP_011512992.1:p.Gly1203Cys
XM_011514691.3:c.3607G>T	XP_011512993.1:p.Gly1203Cys
XM_017010944.2:c.9532G>T	XP_016866433.1:p.Gly3178Cys
XM_017010945.2:c.9457G>T	XP_016866434.1:p.Gly3153Cys
XM_017010946.2:c.9337G>T	XP_016866435.1:p.Gly3113Cys
XM_017010947.2:c.9268G>T	XP_016866436.1:p.Gly3090Cys
XM_017010948.2:c.8821G>T	XP_016866437.1:p.Gly2941Cys
XM_017010949.2:c.7672G>T	XP_016866438.1:p.Gly2558Cys
XM_017010950.1:c.9532G>T	XP_016866439.1:p.Gly3178Cys
XR_001743469.1:n.9808G>T
NM_138694.4:c.9532G>T MANE Select	NP_619639.3:p.Gly3178Cys
NM_170724.3:c.9532G>T	NP_733842.2:p.Gly3178Cys