Canonical Allele Identifier: CA364431960

Gene: PKHD1

Linked Data

• gnomAD v4: 6-52069497-G-C
• MyVariant Identifiers: chr6:g.51934295G>C (hg19) ; chr6:g.52069497G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.52069497G>C , CM000668.2:g.52069497G>C	GRCh38
NC_000006.11:g.51934295G>C , CM000668.1:g.51934295G>C	GRCh37
NC_000006.10:g.52042254G>C	NCBI36
NG_008753.1:g.23129C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.738C>G MANE Select	ENSP00000360158.3:p.Ile246Met
ENST00000340994.4:c.738C>G	ENSP00000341097.4:p.Ile246Met
ENST00000371117.7:c.738C>G	ENSP00000360158.3:p.Ile246Met
NM_138694.3:c.738C>G	NP_619639.3:p.Ile246Met
NM_170724.2:c.738C>G	NP_733842.2:p.Ile246Met
XM_011514679.1:c.738C>G	XP_011512981.1:p.Ile246Met
XM_011514680.1:c.738C>G	XP_011512982.1:p.Ile246Met
XM_011514681.1:c.738C>G	XP_011512983.1:p.Ile246Met
XM_011514682.1:c.738C>G	XP_011512984.1:p.Ile246Met
XM_011514683.1:c.738C>G	XP_011512985.1:p.Ile246Met
XM_011514684.1:c.27C>G	XP_011512986.1:p.Ile9Met
XM_011514685.1:c.738C>G	XP_011512987.1:p.Ile246Met
XM_011514686.1:c.738C>G	XP_011512988.1:p.Ile246Met
XM_011514687.1:c.738C>G	XP_011512989.1:p.Ile246Met
XM_011514688.1:c.738C>G	XP_011512990.1:p.Ile246Met
XM_011514689.1:c.738C>G	XP_011512991.1:p.Ile246Met
XR_926869.1:n.389+301G>C
XM_011514680.3:c.738C>G	XP_011512982.1:p.Ile246Met
XM_011514682.3:c.738C>G	XP_011512984.1:p.Ile246Met
XM_011514683.3:c.738C>G	XP_011512985.1:p.Ile246Met
XM_011514684.3:c.27C>G	XP_011512986.1:p.Ile9Met
XM_011514686.2:c.738C>G	XP_011512988.1:p.Ile246Met
XM_011514688.2:c.738C>G	XP_011512990.1:p.Ile246Met
XM_017010944.2:c.738C>G	XP_016866433.1:p.Ile246Met
XM_017010945.2:c.663C>G	XP_016866434.1:p.Ile221Met
XM_017010946.2:c.738C>G	XP_016866435.1:p.Ile246Met
XM_017010947.2:c.738C>G	XP_016866436.1:p.Ile246Met
XM_017010948.2:c.27C>G	XP_016866437.1:p.Ile9Met
XM_017010950.1:c.738C>G	XP_016866439.1:p.Ile246Met
XM_017010951.1:c.738C>G	XP_016866440.1:p.Ile246Met
XM_017010952.1:c.738C>G	XP_016866441.1:p.Ile246Met
XR_001743469.1:n.1014C>G
NM_138694.4:c.738C>G MANE Select	NP_619639.3:p.Ile246Met
NM_170724.3:c.738C>G	NP_733842.2:p.Ile246Met