Canonical Allele Identifier: CA492288430

Gene: HAPLN3

Linked Data

• gnomAD v4: 15-88881517-G-A
• MyVariant Identifiers: chr15:g.89424748G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881517G>A , CM000677.2:g.88881517G>A	GRCh38
NC_000015.9:g.89424748G>A , CM000677.1:g.89424748G>A	GRCh37
NC_000015.8:g.87225752G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.333C>T MANE Select	ENSP00000352606.4:p.Ser111=
ENST00000359595.7:c.333C>T	ENSP00000352606.3:p.Ser111=
ENST00000558770.5:c.333C>T	ENSP00000456458.1:p.Ser111=
ENST00000562281.1:c.333C>T	ENSP00000456985.1:p.Ser111=
ENST00000562889.5:c.519C>T	ENSP00000457180.1:p.Ser173=
ENST00000563808.1:n.435C>T
NM_001307952.1:c.519C>T	NP_001294881.1:p.Ser173=
NM_178232.2:c.333C>T	NP_839946.1:p.Ser111=
NM_178232.3:c.333C>T	NP_839946.1:p.Ser111=
XM_011521261.1:c.465C>T	XP_011519563.1:p.Ser155=
XR_243204.1:n.548C>T
XR_931756.1:n.654C>T
XM_017021934.2:c.519C>T	XP_016877423.1:p.Ser173=
XM_017021935.2:c.-47C>T	XP_016877424.1:n.-47C>T
XM_017021936.2:c.-47C>T	XP_016877425.1:n.-47C>T
XR_001751098.2:n.666C>T
XR_931756.3:n.667C>T
NM_001307952.2:c.519C>T	NP_001294881.1:p.Ser173=
NM_178232.4:c.333C>T MANE Select	NP_839946.1:p.Ser111=