Canonical Allele Identifier: CA2416000

Gene: HYAL1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.50302789G>A , CM000665.2:g.50302789G>A	GRCh38
NC_000003.11:g.50340220G>A , CM000665.1:g.50340220G>A	GRCh37
NC_000003.10:g.50315224G>A	NCBI36
NG_009295.1:g.14593C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_033159.4:c.168C>T MANE Select	NP_149349.2:p.Phe56=
ENST00000395144.7:c.168C>T MANE Select	ENSP00000378576.2:p.Phe56=
NM_033159.3:c.168C>T	NP_149349.2:p.Phe56=
NM_153281.1:c.168C>T	NP_695013.1:p.Phe56=
NM_153281.2:c.168C>T	NP_695013.1:p.Phe56=
NM_153282.2:c.168C>T	NP_695014.1:p.Phe56=
NM_153282.3:c.168C>T	NP_695014.1:p.Phe56=
NM_153283.2:c.-213-166C>T	NP_695015.1:n.-213-166C>T
NM_153283.3:c.-213-166C>T	NP_695015.1:n.-213-166C>T
NM_153285.2:c.-26-584C>T	NP_695017.1:n.-26-584C>T
NM_153285.3:c.-26-584C>T	NP_695017.1:n.-26-584C>T
NR_047690.1:n.813C>T
NR_047690.2:n.786C>T
ENST00000266031.8:c.168C>T	ENSP00000266031.4:p.Phe56=
ENST00000320295.12:c.168C>T	ENSP00000346068.5:p.Phe56=
ENST00000395143.6:c.168C>T	ENSP00000378575.2:p.Phe56=
ENST00000395144.6:c.168C>T	ENSP00000378576.2:p.Phe56=
ENST00000418723.1:c.168C>T	ENSP00000394526.1:p.Phe56=
ENST00000447605.2:c.-26-584C>T	ENSP00000390149.2:n.-26-584C>T
ENST00000452672.1:c.168C>T	ENSP00000391666.1:p.Phe56=
ENST00000457214.6:c.-213-166C>T	ENSP00000393358.2:n.-213-166C>T
ENST00000618175.4:c.168C>T	ENSP00000477903.1:p.Phe56=
XM_011533667.1:c.168C>T	XP_011531969.1:p.Phe56=
XM_011533667.2:c.168C>T	XP_011531969.1:p.Phe56=
XM_011533668.1:c.168C>T	XP_011531970.1:p.Phe56=
XM_011533668.2:c.168C>T	XP_011531970.1:p.Phe56=
XM_011533669.1:c.168C>T	XP_011531971.1:p.Phe56=
XM_011533669.2:c.168C>T	XP_011531971.1:p.Phe56=