Canonical Allele Identifier: CA460570718

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43169200T>C , CM000670.2:g.43169200T>C	GRCh38
NC_000008.10:g.43024343T>C , CM000670.1:g.43024343T>C	GRCh37
NC_000008.9:g.43143500T>C	NCBI36
NG_009552.1:g.33752T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_152419.3:c.591T>C MANE Select	NP_689632.2:p.Ser197=
ENST00000379644.9:c.591T>C MANE Select	ENSP00000368965.4:p.Ser197=
NM_001363227.1:c.591T>C	NP_001350156.1:p.Ser197=
NM_001363227.2:c.591T>C	NP_001350156.1:p.Ser197=
NM_001363228.1:c.591T>C	NP_001350157.1:p.Ser197=
NM_001363228.2:c.591T>C	NP_001350157.1:p.Ser197=
NM_001363229.1:c.-243T>C	NP_001350158.1:n.-243T>C
NM_001363229.2:c.-243T>C	NP_001350158.1:n.-243T>C
NM_152419.2:c.591T>C	NP_689632.2:p.Ser197=
ENST00000379644.8:c.591T>C	ENSP00000368965.4:p.Ser197=
ENST00000520704.1:c.*40T>C	ENSP00000429109.1:n.*40T>C
XM_005273409.1:c.591T>C	XP_005273466.1:p.Ser197=
XM_005273410.1:c.591T>C	XP_005273467.1:p.Ser197=
XM_005273411.1:c.591T>C	XP_005273468.1:p.Ser197=
XM_005273412.2:c.591T>C	XP_005273469.1:p.Ser197=
XM_005273412.4:c.591T>C	XP_005273469.1:p.Ser197=