Canonical Allele Identifier: CA16527287

Gene: PKD1L3

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.71931293C>T , CM000678.2:g.71931293C>T	GRCh38
NC_000016.9:g.71965196C>T , CM000678.1:g.71965196C>T	GRCh37
NC_000016.8:g.70522697C>T	NCBI36
NG_032958.1:g.73686G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620267.2:c.4927-1110G>A MANE Select	ENSP00000480090.1:n.4927-1110G>A
ENST00000620267.1:c.4927-1110G>A	ENSP00000480090.1:n.4927-1110G>A
NM_181536.1:c.4927-1110G>A	NP_853514.1:n.4927-1110G>A
XM_024450254.1:c.4924-1110G>A	XP_024306022.1:n.4924-1110G>A
XM_024450255.1:c.4909-1110G>A	XP_024306023.1:n.4909-1110G>A
XM_024450256.1:c.4750-1110G>A	XP_024306024.1:n.4750-1110G>A
XM_024450257.1:c.4741-1110G>A	XP_024306025.1:n.4741-1110G>A
XM_024450258.1:c.4375-1110G>A	XP_024306026.1:n.4375-1110G>A
XM_024450259.1:c.4375-1110G>A	XP_024306027.1:n.4375-1110G>A
XM_024450260.1:c.4219-1110G>A	XP_024306028.1:n.4219-1110G>A
NM_181536.2:c.4927-1110G>A MANE Select	NP_853514.1:n.4927-1110G>A