Canonical Allele Identifier: CA371119551

Gene: HGSNAT

Linked Data

• ClinVar Variation Id: 975713
• ClinVar RCV Id: RCV001252519
• dbSNP Id: rs755565282
• MyVariant Identifiers: chr8:g.43047454C>T (hg19) ; chr8:g.43192311C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43192311C>T , CM000670.2:g.43192311C>T	GRCh38
NC_000008.10:g.43047454C>T , CM000670.1:g.43047454C>T	GRCh37
NC_000008.9:g.43166611C>T	NCBI36
NG_009552.1:g.56863C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.1258C>T MANE Select	ENSP00000368965.4:p.Leu420Phe
ENST00000379644.8:c.1258C>T	ENSP00000368965.4:p.Leu420Phe
ENST00000520678.1:n.191C>T
ENST00000521576.1:c.409C>T	ENSP00000429029.1:p.Leu137Phe
ENST00000524016.5:c.362C>T
NM_152419.2:c.1258C>T	NP_689632.2:p.Leu420Phe
XM_005273409.1:c.1258C>T	XP_005273466.1:p.Leu420Phe
XM_005273410.1:c.1258C>T	XP_005273467.1:p.Leu420Phe
XM_005273411.1:c.1066C>T	XP_005273468.1:p.Leu356Phe
XM_005273412.2:c.1258C>T	XP_005273469.1:p.Leu420Phe
NM_001363227.1:c.1258C>T	NP_001350156.1:p.Leu420Phe
NM_001363228.1:c.1066C>T	NP_001350157.1:p.Leu356Phe
NM_001363229.1:c.394C>T	NP_001350158.1:p.Leu132Phe
XM_005273412.4:c.1258C>T	XP_005273469.1:p.Leu420Phe
NM_152419.3:c.1258C>T MANE Select	NP_689632.2:p.Leu420Phe
NM_001363227.2:c.1258C>T	NP_001350156.1:p.Leu420Phe
NM_001363228.2:c.1066C>T	NP_001350157.1:p.Leu356Phe
NM_001363229.2:c.394C>T	NP_001350158.1:p.Leu132Phe