Canonical Allele Identifier: CA433863352

Gene: HYAL1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50300744C>T , CM000665.2:g.50300744C>T	GRCh38
NC_000003.11:g.50338175C>T , CM000665.1:g.50338175C>T	GRCh37
NC_000003.10:g.50313179C>T	NCBI36
NG_009295.1:g.16638G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_033159.4:c.1047G>A MANE Select	NP_149349.2:p.Leu349=
ENST00000395144.7:c.1047G>A MANE Select	ENSP00000378576.2:p.Leu349=
NM_033159.3:c.1047G>A	NP_149349.2:p.Leu349=
NM_153281.1:c.1047G>A	NP_695013.1:p.Leu349=
NM_153281.2:c.1047G>A	NP_695013.1:p.Leu349=
NM_153282.2:c.957G>A	NP_695014.1:p.Leu319=
NM_153282.3:c.957G>A	NP_695014.1:p.Leu319=
NM_153283.2:c.501G>A	NP_695015.1:p.Leu167=
NM_153283.3:c.501G>A	NP_695015.1:p.Leu167=
NM_153285.2:c.270G>A	NP_695017.1:p.Leu90=
NM_153285.3:c.270G>A	NP_695017.1:p.Leu90=
NR_047690.1:n.1692G>A
NR_047690.2:n.1665G>A
ENST00000266031.8:c.1047G>A	ENSP00000266031.4:p.Leu349=
ENST00000320295.12:c.1047G>A	ENSP00000346068.5:p.Leu349=
ENST00000395143.6:c.957G>A	ENSP00000378575.2:p.Leu319=
ENST00000395144.6:c.1047G>A	ENSP00000378576.2:p.Leu349=
ENST00000447605.2:c.270G>A	ENSP00000390149.2:p.Leu90=
ENST00000457214.6:c.501G>A	ENSP00000393358.2:p.Leu167=
ENST00000618175.4:c.1047G>A	ENSP00000477903.1:p.Leu349=
XM_011533667.1:c.1047G>A	XP_011531969.1:p.Leu349=
XM_011533667.2:c.1047G>A	XP_011531969.1:p.Leu349=
XM_011533668.1:c.1047G>A	XP_011531970.1:p.Leu349=
XM_011533668.2:c.1047G>A	XP_011531970.1:p.Leu349=
XM_011533669.1:c.1047G>A	XP_011531971.1:p.Leu349=
XM_011533669.2:c.1047G>A	XP_011531971.1:p.Leu349=