Canonical Allele Identifier: CA10624351

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 357361
• ClinVar RCV Id: RCV000262743
• dbSNP Id: rs886061593
• gnomAD v3: 6-51615812-G-T
• gnomAD v4: 6-51615812-G-T
• MyVariant Identifiers: chr6:g.51480610G>T (hg19) ; chr6:g.51615812G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51615812G>T , CM000668.2:g.51615812G>T	GRCh38
NC_000006.11:g.51480610G>T , CM000668.1:g.51480610G>T	GRCh37
NC_000006.10:g.51588569G>T	NCBI36
NG_008753.1:g.476814C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.*3269C>A MANE Select	ENSP00000360158.3:n.*3269C>A
ENST00000371117.7:c.*3269C>A	ENSP00000360158.3:n.*3269C>A
NM_138694.3:c.*3269C>A	NP_619639.3:n.*3269C>A
XM_011514679.1:c.*3269C>A	XP_011512981.1:n.*3269C>A
XM_011514680.1:c.*3269C>A	XP_011512982.1:n.*3269C>A
XM_011514681.1:c.*3269C>A	XP_011512983.1:n.*3269C>A
XM_011514682.1:c.*3269C>A	XP_011512984.1:n.*3269C>A
XM_011514683.1:c.*3269C>A	XP_011512985.1:n.*3269C>A
XM_011514684.1:c.*3269C>A	XP_011512986.1:n.*3269C>A
XM_011514690.1:c.*3269C>A	XP_011512992.1:n.*3269C>A
XM_011514691.1:c.*3269C>A	XP_011512993.1:n.*3269C>A
XM_011514680.3:c.*3269C>A	XP_011512982.1:n.*3269C>A
XM_011514682.3:c.*3269C>A	XP_011512984.1:n.*3269C>A
XM_011514683.3:c.*3269C>A	XP_011512985.1:n.*3269C>A
XM_011514684.3:c.*3269C>A	XP_011512986.1:n.*3269C>A
XM_011514690.3:c.*3269C>A	XP_011512992.1:n.*3269C>A
XM_011514691.3:c.*3269C>A	XP_011512993.1:n.*3269C>A
XM_017010944.2:c.*3269C>A	XP_016866433.1:n.*3269C>A
XM_017010945.2:c.*3269C>A	XP_016866434.1:n.*3269C>A
XM_017010946.2:c.*3269C>A	XP_016866435.1:n.*3269C>A
XM_017010947.2:c.*3269C>A	XP_016866436.1:n.*3269C>A
XM_017010948.2:c.*3269C>A	XP_016866437.1:n.*3269C>A
XM_017010949.2:c.*3269C>A	XP_016866438.1:n.*3269C>A
NM_138694.4:c.*3269C>A MANE Select	NP_619639.3:n.*3269C>A