Canonical Allele Identifier: CA122048694

Gene: HAPLN1

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.83664915A>G , CM000667.2:g.83664915A>G	GRCh38
NC_000005.9:g.82960734A>G , CM000667.1:g.82960734A>G	GRCh37
NC_000005.8:g.82996490A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274341.9:c.100+8509T>C MANE Select	ENSP00000274341.4:n.100+8509T>C
ENST00000274341.8:c.100+8509T>C	ENSP00000274341.4:n.100+8509T>C
ENST00000503117.1:c.100+8509T>C	ENSP00000426610.1:n.100+8509T>C
ENST00000504713.5:c.100+8509T>C	ENSP00000422522.2:n.100+8509T>C
ENST00000508307.5:c.100+8509T>C	ENSP00000421341.1:n.100+8509T>C
ENST00000510978.5:c.100+8509T>C	ENSP00000422592.1:n.100+8509T>C
ENST00000514416.5:c.100+8509T>C	ENSP00000421726.1:n.100+8509T>C
ENST00000515590.1:c.100+8509T>C	ENSP00000423836.1:n.100+8509T>C
NM_001884.3:c.100+8509T>C	NP_001875.1:n.100+8509T>C
XM_011543168.1:c.100+8509T>C	XP_011541470.1:n.100+8509T>C
XM_011543169.1:c.100+8509T>C	XP_011541471.1:n.100+8509T>C
XM_011543168.2:c.100+8509T>C	XP_011541470.1:n.100+8509T>C
XM_017009051.1:c.100+8509T>C	XP_016864540.1:n.100+8509T>C
XM_017009052.1:c.100+8509T>C	XP_016864541.1:n.100+8509T>C
XM_017009053.1:c.100+8509T>C	XP_016864542.1:n.100+8509T>C
XM_017009054.2:c.100+8509T>C	XP_016864543.1:n.100+8509T>C
NM_001884.4:c.100+8509T>C MANE Select	NP_001875.1:n.100+8509T>C