Canonical Allele Identifier: CA138896253

Gene: PKHD1

Linked Data

• dbSNP Id: rs45600034
• gnomAD v2: 6-51612998-T-G
• gnomAD v3: 6-51748200-T-G
• gnomAD v4: 6-51748200-T-G
• MyVariant Identifiers: chr6:g.51612998T>G (hg19) ; chr6:g.51748200T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.51748200T>G , CM000668.2:g.51748200T>G	GRCh38
NC_000006.11:g.51612998T>G , CM000668.1:g.51612998T>G	GRCh37
NC_000006.10:g.51720957T>G	NCBI36
NG_008753.1:g.344426A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371117.8:c.9416A>C MANE Select	ENSP00000360158.3:p.Asp3139Ala
ENST00000340994.4:c.9416A>C	ENSP00000341097.4:p.Asp3139Ala
ENST00000371117.7:c.9416A>C	ENSP00000360158.3:p.Asp3139Ala
NM_138694.3:c.9416A>C	NP_619639.3:p.Asp3139Ala
NM_170724.2:c.9416A>C	NP_733842.2:p.Asp3139Ala
XM_011514679.1:c.9416A>C	XP_011512981.1:p.Asp3139Ala
XM_011514680.1:c.9416A>C	XP_011512982.1:p.Asp3139Ala
XM_011514681.1:c.9287A>C	XP_011512983.1:p.Asp3096Ala
XM_011514682.1:c.9278A>C	XP_011512984.1:p.Asp3093Ala
XM_011514683.1:c.8774A>C	XP_011512985.1:p.Asp2925Ala
XM_011514684.1:c.8705A>C	XP_011512986.1:p.Asp2902Ala
XM_011514685.1:c.9416A>C	XP_011512987.1:p.Asp3139Ala
XM_011514686.1:c.9416A>C	XP_011512988.1:p.Asp3139Ala
XM_011514687.1:c.9416A>C	XP_011512989.1:p.Asp3139Ala
XM_011514688.1:c.9416A>C	XP_011512990.1:p.Asp3139Ala
XM_011514690.1:c.3491A>C	XP_011512992.1:p.Asp1164Ala
XM_011514691.1:c.3491A>C	XP_011512993.1:p.Asp1164Ala
XM_011514680.3:c.9416A>C	XP_011512982.1:p.Asp3139Ala
XM_011514682.3:c.9278A>C	XP_011512984.1:p.Asp3093Ala
XM_011514683.3:c.8774A>C	XP_011512985.1:p.Asp2925Ala
XM_011514684.3:c.8705A>C	XP_011512986.1:p.Asp2902Ala
XM_011514686.2:c.9416A>C	XP_011512988.1:p.Asp3139Ala
XM_011514688.2:c.9416A>C	XP_011512990.1:p.Asp3139Ala
XM_011514690.3:c.3491A>C	XP_011512992.1:p.Asp1164Ala
XM_011514691.3:c.3491A>C	XP_011512993.1:p.Asp1164Ala
XM_017010944.2:c.9416A>C	XP_016866433.1:p.Asp3139Ala
XM_017010945.2:c.9341A>C	XP_016866434.1:p.Asp3114Ala
XM_017010946.2:c.9221A>C	XP_016866435.1:p.Asp3074Ala
XM_017010947.2:c.9152A>C	XP_016866436.1:p.Asp3051Ala
XM_017010948.2:c.8705A>C	XP_016866437.1:p.Asp2902Ala
XM_017010949.2:c.7556A>C	XP_016866438.1:p.Asp2519Ala
XM_017010950.1:c.9416A>C	XP_016866439.1:p.Asp3139Ala
XR_001743469.1:n.9692A>C
NM_138694.4:c.9416A>C MANE Select	NP_619639.3:p.Asp3139Ala
NM_170724.3:c.9416A>C	NP_733842.2:p.Asp3139Ala