Canonical Allele Identifier: CA122051434

Gene: HAPLN1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.83689920T>G , CM000667.2:g.83689920T>G	GRCh38
NC_000005.9:g.82985739T>G , CM000667.1:g.82985739T>G	GRCh37
NC_000005.8:g.83021495T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274341.9:c.-26-16371A>C MANE Select	ENSP00000274341.4:n.-26-16371A>C
ENST00000274341.8:c.-26-16371A>C	ENSP00000274341.4:n.-26-16371A>C
ENST00000515590.1:c.-76-14583A>C	ENSP00000423836.1:n.-76-14583A>C
NM_001884.3:c.-26-16371A>C	NP_001875.1:n.-26-16371A>C
XM_011543169.1:c.-26-16371A>C	XP_011541471.1:n.-26-16371A>C
XM_017009051.1:c.-76-14583A>C	XP_016864540.1:n.-76-14583A>C
XM_017009052.1:c.-27+3250A>C	XP_016864541.1:n.-27+3250A>C
XM_017009053.1:c.-26-16371A>C	XP_016864542.1:n.-26-16371A>C
NM_001884.4:c.-26-16371A>C MANE Select	NP_001875.1:n.-26-16371A>C