Canonical Allele Identifier: CA364424079

Gene: PKHD1

Linked Data

• MyVariant Identifiers: chr6:g.51613365A>G (hg19) ; chr6:g.51748567A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748567A>G , CM000668.2:g.51748567A>G	GRCh38
NC_000006.11:g.51613365A>G , CM000668.1:g.51613365A>G	GRCh37
NC_000006.10:g.51721324A>G	NCBI36
NG_008753.1:g.344059T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000371117.8:c.9049T>C MANE Select	ENSP00000360158.3:p.Ser3017Pro
ENST00000340994.4:c.9049T>C	ENSP00000341097.4:p.Ser3017Pro
ENST00000371117.7:c.9049T>C	ENSP00000360158.3:p.Ser3017Pro
NM_138694.3:c.9049T>C	NP_619639.3:p.Ser3017Pro
NM_170724.2:c.9049T>C	NP_733842.2:p.Ser3017Pro
XM_011514679.1:c.9049T>C	XP_011512981.1:p.Ser3017Pro
XM_011514680.1:c.9049T>C	XP_011512982.1:p.Ser3017Pro
XM_011514681.1:c.8920T>C	XP_011512983.1:p.Ser2974Pro
XM_011514682.1:c.8911T>C	XP_011512984.1:p.Ser2971Pro
XM_011514683.1:c.8407T>C	XP_011512985.1:p.Ser2803Pro
XM_011514684.1:c.8338T>C	XP_011512986.1:p.Ser2780Pro
XM_011514685.1:c.9049T>C	XP_011512987.1:p.Ser3017Pro
XM_011514686.1:c.9049T>C	XP_011512988.1:p.Ser3017Pro
XM_011514687.1:c.9049T>C	XP_011512989.1:p.Ser3017Pro
XM_011514688.1:c.9049T>C	XP_011512990.1:p.Ser3017Pro
XM_011514690.1:c.3124T>C	XP_011512992.1:p.Ser1042Pro
XM_011514691.1:c.3124T>C	XP_011512993.1:p.Ser1042Pro
XM_011514680.3:c.9049T>C	XP_011512982.1:p.Ser3017Pro
XM_011514682.3:c.8911T>C	XP_011512984.1:p.Ser2971Pro
XM_011514683.3:c.8407T>C	XP_011512985.1:p.Ser2803Pro
XM_011514684.3:c.8338T>C	XP_011512986.1:p.Ser2780Pro
XM_011514686.2:c.9049T>C	XP_011512988.1:p.Ser3017Pro
XM_011514688.2:c.9049T>C	XP_011512990.1:p.Ser3017Pro
XM_011514690.3:c.3124T>C	XP_011512992.1:p.Ser1042Pro
XM_011514691.3:c.3124T>C	XP_011512993.1:p.Ser1042Pro
XM_017010944.2:c.9049T>C	XP_016866433.1:p.Ser3017Pro
XM_017010945.2:c.8974T>C	XP_016866434.1:p.Ser2992Pro
XM_017010946.2:c.8854T>C	XP_016866435.1:p.Ser2952Pro
XM_017010947.2:c.8785T>C	XP_016866436.1:p.Ser2929Pro
XM_017010948.2:c.8338T>C	XP_016866437.1:p.Ser2780Pro
XM_017010949.2:c.7189T>C	XP_016866438.1:p.Ser2397Pro
XM_017010950.1:c.9049T>C	XP_016866439.1:p.Ser3017Pro
XR_001743469.1:n.9325T>C
NM_138694.4:c.9049T>C MANE Select	NP_619639.3:p.Ser3017Pro
NM_170724.3:c.9049T>C	NP_733842.2:p.Ser3017Pro