Canonical Allele Identifier: CA371118347

Gene: HGSNAT

Linked Data

• COSMIC: COSM5817936 ; COSM5817937
• MyVariant Identifiers: chr8:g.43037311C>T (hg19) ; chr8:g.43182168C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43182168C>T , CM000670.2:g.43182168C>T	GRCh38
NC_000008.10:g.43037311C>T , CM000670.1:g.43037311C>T	GRCh37
NC_000008.9:g.43156468C>T	NCBI36
NG_009552.1:g.46720C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.1036C>T MANE Select	ENSP00000368965.4:p.Pro346Ser
ENST00000379644.8:c.1036C>T	ENSP00000368965.4:p.Pro346Ser
ENST00000519000.1:n.522C>T
ENST00000521576.1:c.187C>T	ENSP00000429029.1:p.Pro63Ser
ENST00000522082.5:c.277C>T	ENSP00000430151.1:p.Pro93Ser
ENST00000524016.5:c.140C>T
NM_152419.2:c.1036C>T	NP_689632.2:p.Pro346Ser
XM_005273409.1:c.1036C>T	XP_005273466.1:p.Pro346Ser
XM_005273410.1:c.1036C>T	XP_005273467.1:p.Pro346Ser
XM_005273411.1:c.844C>T	XP_005273468.1:p.Pro282Ser
XM_005273412.2:c.1036C>T	XP_005273469.1:p.Pro346Ser
NM_001363227.1:c.1036C>T	NP_001350156.1:p.Pro346Ser
NM_001363228.1:c.844C>T	NP_001350157.1:p.Pro282Ser
NM_001363229.1:c.172C>T	NP_001350158.1:p.Pro58Ser
XM_005273412.4:c.1036C>T	XP_005273469.1:p.Pro346Ser
NM_152419.3:c.1036C>T MANE Select	NP_689632.2:p.Pro346Ser
NM_001363227.2:c.1036C>T	NP_001350156.1:p.Pro346Ser
NM_001363228.2:c.844C>T	NP_001350157.1:p.Pro282Ser
NM_001363229.2:c.172C>T	NP_001350158.1:p.Pro58Ser