Canonical Allele Identifier: CA2687149798

Gene: HGSNAT

Linked Data

• gnomAD v4: 8-43140617-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43140617G>T , CM000670.2:g.43140617G>T	GRCh38
NC_000008.10:g.42995760G>T , CM000670.1:g.42995760G>T	GRCh37
NC_000008.9:g.43114917G>T	NCBI36
NG_009552.1:g.5169G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000379644.9:c.118+3G>T MANE Select	ENSP00000368965.4:n.118+3G>T
ENST00000379644.8:c.118+3G>T	ENSP00000368965.4:n.118+3G>T
ENST00000517319.1:c.118+3G>T	ENSP00000430032.1:n.118+3G>T
ENST00000520704.1:c.-33+3G>T	ENSP00000429109.1:n.-33+3G>T
NM_152419.2:c.118+3G>T	NP_689632.2:n.118+3G>T
XM_005273409.1:c.118+3G>T	XP_005273466.1:n.118+3G>T
XM_005273410.1:c.118+3G>T	XP_005273467.1:n.118+3G>T
XM_005273411.1:c.118+3G>T	XP_005273468.1:n.118+3G>T
XM_005273412.2:c.118+3G>T	XP_005273469.1:n.118+3G>T
NM_001363227.1:c.118+3G>T	NP_001350156.1:n.118+3G>T
NM_001363228.1:c.118+3G>T	NP_001350157.1:n.118+3G>T
NM_001363229.1:c.-716+3G>T	NP_001350158.1:n.-716+3G>T
XM_005273412.4:c.118+3G>T	XP_005273469.1:n.118+3G>T
NM_152419.3:c.118+3G>T MANE Select	NP_689632.2:n.118+3G>T
NM_001363227.2:c.118+3G>T	NP_001350156.1:n.118+3G>T
NM_001363228.2:c.118+3G>T	NP_001350157.1:n.118+3G>T
NM_001363229.2:c.-716+3G>T	NP_001350158.1:n.-716+3G>T