Canonical Allele Identifier: CA3851494

Gene: PKHD1

Linked Data

• dbSNP Id: rs751737027
• ExAC: 6:51618032 A / G
• gnomAD v2: 6-51618032-A-G
• gnomAD v4: 6-51753234-A-G
• MyVariant Identifiers: chr6:g.51618032A>G (hg19) ; chr6:g.51753234A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51753234A>G , CM000668.2:g.51753234A>G	GRCh38
NC_000006.11:g.51618032A>G , CM000668.1:g.51618032A>G	GRCh37
NC_000006.10:g.51725991A>G	NCBI36
NG_008753.1:g.339392T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.8917T>C MANE Select	ENSP00000360158.3:p.Ser2973Pro
ENST00000340994.4:c.8917T>C	ENSP00000341097.4:p.Ser2973Pro
ENST00000371117.7:c.8917T>C	ENSP00000360158.3:p.Ser2973Pro
NM_138694.3:c.8917T>C	NP_619639.3:p.Ser2973Pro
NM_170724.2:c.8917T>C	NP_733842.2:p.Ser2973Pro
XM_011514679.1:c.8917T>C	XP_011512981.1:p.Ser2973Pro
XM_011514680.1:c.8917T>C	XP_011512982.1:p.Ser2973Pro
XM_011514681.1:c.8788T>C	XP_011512983.1:p.Ser2930Pro
XM_011514682.1:c.8779T>C	XP_011512984.1:p.Ser2927Pro
XM_011514683.1:c.8275T>C	XP_011512985.1:p.Ser2759Pro
XM_011514684.1:c.8206T>C	XP_011512986.1:p.Ser2736Pro
XM_011514685.1:c.8917T>C	XP_011512987.1:p.Ser2973Pro
XM_011514686.1:c.8917T>C	XP_011512988.1:p.Ser2973Pro
XM_011514687.1:c.8917T>C	XP_011512989.1:p.Ser2973Pro
XM_011514688.1:c.8917T>C	XP_011512990.1:p.Ser2973Pro
XM_011514690.1:c.2992T>C	XP_011512992.1:p.Ser998Pro
XM_011514691.1:c.2992T>C	XP_011512993.1:p.Ser998Pro
XM_011514680.3:c.8917T>C	XP_011512982.1:p.Ser2973Pro
XM_011514682.3:c.8779T>C	XP_011512984.1:p.Ser2927Pro
XM_011514683.3:c.8275T>C	XP_011512985.1:p.Ser2759Pro
XM_011514684.3:c.8206T>C	XP_011512986.1:p.Ser2736Pro
XM_011514686.2:c.8917T>C	XP_011512988.1:p.Ser2973Pro
XM_011514688.2:c.8917T>C	XP_011512990.1:p.Ser2973Pro
XM_011514690.3:c.2992T>C	XP_011512992.1:p.Ser998Pro
XM_011514691.3:c.2992T>C	XP_011512993.1:p.Ser998Pro
XM_017010944.2:c.8917T>C	XP_016866433.1:p.Ser2973Pro
XM_017010945.2:c.8842T>C	XP_016866434.1:p.Ser2948Pro
XM_017010946.2:c.8722T>C	XP_016866435.1:p.Ser2908Pro
XM_017010947.2:c.8653T>C	XP_016866436.1:p.Ser2885Pro
XM_017010948.2:c.8206T>C	XP_016866437.1:p.Ser2736Pro
XM_017010949.2:c.7057T>C	XP_016866438.1:p.Ser2353Pro
XM_017010950.1:c.8917T>C	XP_016866439.1:p.Ser2973Pro
XR_001743469.1:n.9193T>C
NM_138694.4:c.8917T>C MANE Select	NP_619639.3:p.Ser2973Pro
NM_170724.3:c.8917T>C	NP_733842.2:p.Ser2973Pro