Canonical Allele Identifier: CA393733970

Gene: HAPLN3

Linked Data

• MyVariant Identifiers: chr15:g.89424882T>G (hg19) ; chr15:g.88881651T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.88881651T>G , CM000677.2:g.88881651T>G	GRCh38
NC_000015.9:g.89424882T>G , CM000677.1:g.89424882T>G	GRCh37
NC_000015.8:g.87225886T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359595.8:c.199A>C MANE Select	ENSP00000352606.4:p.Ile67Leu
ENST00000359595.7:c.199A>C	ENSP00000352606.3:p.Ile67Leu
ENST00000558770.5:c.199A>C	ENSP00000456458.1:p.Ile67Leu
ENST00000562281.1:c.199A>C	ENSP00000456985.1:p.Ile67Leu
ENST00000562889.5:c.385A>C	ENSP00000457180.1:p.Ile129Leu
ENST00000563808.1:n.301A>C
NM_001307952.1:c.385A>C	NP_001294881.1:p.Ile129Leu
NM_178232.2:c.199A>C	NP_839946.1:p.Ile67Leu
NM_178232.3:c.199A>C	NP_839946.1:p.Ile67Leu
XM_011521261.1:c.331A>C	XP_011519563.1:p.Ile111Leu
XR_243204.1:n.414A>C
XR_931756.1:n.520A>C
XM_017021934.2:c.385A>C	XP_016877423.1:p.Ile129Leu
XM_017021935.2:c.-181A>C	XP_016877424.1:n.-181A>C
XM_017021936.2:c.-181A>C	XP_016877425.1:n.-181A>C
XR_001751098.2:n.532A>C
XR_931756.3:n.533A>C
NM_001307952.2:c.385A>C	NP_001294881.1:p.Ile129Leu
NM_178232.4:c.199A>C MANE Select	NP_839946.1:p.Ile67Leu