Canonical Allele Identifier: CA3851441

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 1631226
• ClinVar RCV Id: RCV002123898
• dbSNP Id: rs772138645
• ExAC: 6:51613270 G / C
• gnomAD v2: 6-51613270-G-C
• gnomAD v4: 6-51748472-G-C
• MyVariant Identifiers: chr6:g.51613270G>C (hg19) ; chr6:g.51748472G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748472G>C , CM000668.2:g.51748472G>C	GRCh38
NC_000006.11:g.51613270G>C , CM000668.1:g.51613270G>C	GRCh37
NC_000006.10:g.51721229G>C	NCBI36
NG_008753.1:g.344154C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.9144C>G MANE Select	ENSP00000360158.3:p.Gly3048=
ENST00000340994.4:c.9144C>G	ENSP00000341097.4:p.Gly3048=
ENST00000371117.7:c.9144C>G	ENSP00000360158.3:p.Gly3048=
NM_138694.3:c.9144C>G	NP_619639.3:p.Gly3048=
NM_170724.2:c.9144C>G	NP_733842.2:p.Gly3048=
XM_011514679.1:c.9144C>G	XP_011512981.1:p.Gly3048=
XM_011514680.1:c.9144C>G	XP_011512982.1:p.Gly3048=
XM_011514681.1:c.9015C>G	XP_011512983.1:p.Gly3005=
XM_011514682.1:c.9006C>G	XP_011512984.1:p.Gly3002=
XM_011514683.1:c.8502C>G	XP_011512985.1:p.Gly2834=
XM_011514684.1:c.8433C>G	XP_011512986.1:p.Gly2811=
XM_011514685.1:c.9144C>G	XP_011512987.1:p.Gly3048=
XM_011514686.1:c.9144C>G	XP_011512988.1:p.Gly3048=
XM_011514687.1:c.9144C>G	XP_011512989.1:p.Gly3048=
XM_011514688.1:c.9144C>G	XP_011512990.1:p.Gly3048=
XM_011514690.1:c.3219C>G	XP_011512992.1:p.Gly1073=
XM_011514691.1:c.3219C>G	XP_011512993.1:p.Gly1073=
XM_011514680.3:c.9144C>G	XP_011512982.1:p.Gly3048=
XM_011514682.3:c.9006C>G	XP_011512984.1:p.Gly3002=
XM_011514683.3:c.8502C>G	XP_011512985.1:p.Gly2834=
XM_011514684.3:c.8433C>G	XP_011512986.1:p.Gly2811=
XM_011514686.2:c.9144C>G	XP_011512988.1:p.Gly3048=
XM_011514688.2:c.9144C>G	XP_011512990.1:p.Gly3048=
XM_011514690.3:c.3219C>G	XP_011512992.1:p.Gly1073=
XM_011514691.3:c.3219C>G	XP_011512993.1:p.Gly1073=
XM_017010944.2:c.9144C>G	XP_016866433.1:p.Gly3048=
XM_017010945.2:c.9069C>G	XP_016866434.1:p.Gly3023=
XM_017010946.2:c.8949C>G	XP_016866435.1:p.Gly2983=
XM_017010947.2:c.8880C>G	XP_016866436.1:p.Gly2960=
XM_017010948.2:c.8433C>G	XP_016866437.1:p.Gly2811=
XM_017010949.2:c.7284C>G	XP_016866438.1:p.Gly2428=
XM_017010950.1:c.9144C>G	XP_016866439.1:p.Gly3048=
XR_001743469.1:n.9420C>G
NM_138694.4:c.9144C>G MANE Select	NP_619639.3:p.Gly3048=
NM_170724.3:c.9144C>G	NP_733842.2:p.Gly3048=