Canonical Allele Identifier: CA1113296139

Gene: HGSNAT

Linked Data

• dbSNP Id: rs1804890914
• gnomAD v3: 8-43200713-C-T
• gnomAD v4: 8-43200713-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43200713C>T , CM000670.2:g.43200713C>T	GRCh38
NC_000008.10:g.43055856C>T , CM000670.1:g.43055856C>T	GRCh37
NC_000008.9:g.43175013C>T	NCBI36
NG_009552.1:g.65265C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.*1144C>T MANE Select	ENSP00000368965.4:n.*1144C>T
ENST00000379644.8:c.*1144C>T	ENSP00000368965.4:n.*1144C>T
NM_152419.2:c.*1144C>T	NP_689632.2:n.*1144C>T
XM_005273409.1:c.*1144C>T	XP_005273466.1:n.*1144C>T
XM_005273410.1:c.*1144C>T	XP_005273467.1:n.*1144C>T
XM_005273411.1:c.*1144C>T	XP_005273468.1:n.*1144C>T
NM_001363227.1:c.*1144C>T	NP_001350156.1:n.*1144C>T
NM_001363228.1:c.*1144C>T	NP_001350157.1:n.*1144C>T
NM_001363229.1:c.*1144C>T	NP_001350158.1:n.*1144C>T
NM_152419.3:c.*1144C>T MANE Select	NP_689632.2:n.*1144C>T
NM_001363227.2:c.*1144C>T	NP_001350156.1:n.*1144C>T
NM_001363228.2:c.*1144C>T	NP_001350157.1:n.*1144C>T
NM_001363229.2:c.*1144C>T	NP_001350158.1:n.*1144C>T