Canonical Allele Identifier: CA1559853191
Gene: HAPLN1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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