Canonical Allele Identifier: CA246986

Gene: PKHD1

Linked Data

• ClinVar Variation Id: 198368
• ClinVar RCV Id: RCV000179675 ; RCV000589131 ; RCV000674658 ; RCV003319328 ; RCV003937626
• dbSNP Id: rs143616240
• ExAC: 6:51484077 G / C
• gnomAD v2: 6-51484077-G-C
• gnomAD v3: 6-51619279-G-C
• gnomAD v4: 6-51619279-G-C
• MyVariant Identifiers: chr6:g.51484077G>C (hg19) ; chr6:g.51619279G>C (hg38)
• PubMed: PMID:15108277 ; PMID:15108281

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51619279G>C , CM000668.2:g.51619279G>C	GRCh38
NC_000006.11:g.51484077G>C , CM000668.1:g.51484077G>C	GRCh37
NC_000006.10:g.51592036G>C	NCBI36
NG_008753.1:g.473347C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.12027C>G MANE Select	ENSP00000360158.3:p.Tyr4009Ter
ENST00000371117.7:c.12027C>G	ENSP00000360158.3:p.Tyr4009Ter
NM_138694.3:c.12027C>G	NP_619639.3:p.Tyr4009Ter
XM_011514679.1:c.12027C>G	XP_011512981.1:p.Tyr4009Ter
XM_011514680.1:c.12027C>G	XP_011512982.1:p.Tyr4009Ter
XM_011514681.1:c.11898C>G	XP_011512983.1:p.Tyr3966Ter
XM_011514682.1:c.11889C>G	XP_011512984.1:p.Tyr3963Ter
XM_011514683.1:c.11385C>G	XP_011512985.1:p.Tyr3795Ter
XM_011514684.1:c.11316C>G	XP_011512986.1:p.Tyr3772Ter
XM_011514690.1:c.6102C>G	XP_011512992.1:p.Tyr2034Ter
XM_011514691.1:c.6102C>G	XP_011512993.1:p.Tyr2034Ter
XM_011514680.3:c.12027C>G	XP_011512982.1:p.Tyr4009Ter
XM_011514682.3:c.11889C>G	XP_011512984.1:p.Tyr3963Ter
XM_011514683.3:c.11385C>G	XP_011512985.1:p.Tyr3795Ter
XM_011514684.3:c.11316C>G	XP_011512986.1:p.Tyr3772Ter
XM_011514690.3:c.6102C>G	XP_011512992.1:p.Tyr2034Ter
XM_011514691.3:c.6102C>G	XP_011512993.1:p.Tyr2034Ter
XM_017010944.2:c.12027C>G	XP_016866433.1:p.Tyr4009Ter
XM_017010945.2:c.11952C>G	XP_016866434.1:p.Tyr3984Ter
XM_017010946.2:c.11832C>G	XP_016866435.1:p.Tyr3944Ter
XM_017010947.2:c.11763C>G	XP_016866436.1:p.Tyr3921Ter
XM_017010948.2:c.11316C>G	XP_016866437.1:p.Tyr3772Ter
XM_017010949.2:c.10167C>G	XP_016866438.1:p.Tyr3389Ter
NM_138694.4:c.12027C>G MANE Select	NP_619639.3:p.Tyr4009Ter