Canonical Allele Identifier: CA1113285006

Gene: HGSNAT

Linked Data

• dbSNP Id: rs1803690381
• gnomAD v3: 8-43173294-T-TGAGTTTTCTTTTTCTTTTTCTTTTTTTTTTTTGAGATG
• gnomAD v4: 8-43173294-T-TGAGTTTTCTTTTTCTTTTTCTTTTTTTTTTTTGAGATG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43173301_43173338dup , CM000670.2:g.43173301_43173338dup	GRCh38
NC_000008.10:g.43028444_43028481dup , CM000670.1:g.43028444_43028481dup	GRCh37
NC_000008.9:g.43147601_43147638dup	NCBI36
NG_009552.1:g.37853_37890dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379644.9:c.821-412_821-375dup MANE Select	ENSP00000368965.4:n.821-412_821-375dup
ENST00000379644.8:c.821-412_821-375dup	ENSP00000368965.4:n.821-412_821-375dup
ENST00000520704.1:c.*270-412_*270-375dup	ENSP00000429109.1:n.*270-412_*270-375dup
ENST00000522082.5:c.62-412_62-375dup	ENSP00000430151.1:n.62-412_62-375dup
NM_152419.2:c.821-412_821-375dup	NP_689632.2:n.821-412_821-375dup
XM_005273409.1:c.821-412_821-375dup	XP_005273466.1:n.821-412_821-375dup
XM_005273410.1:c.821-412_821-375dup	XP_005273467.1:n.821-412_821-375dup
XM_005273411.1:c.820+915_820+952dup	XP_005273468.1:n.820+915_820+952dup
XM_005273412.2:c.821-412_821-375dup	XP_005273469.1:n.821-412_821-375dup
NM_001363227.1:c.821-412_821-375dup	NP_001350156.1:n.821-412_821-375dup
NM_001363228.1:c.820+915_820+952dup	NP_001350157.1:n.820+915_820+952dup
NM_001363229.1:c.-14+915_-14+952dup	NP_001350158.1:n.-14+915_-14+952dup
XM_005273412.4:c.821-412_821-375dup	XP_005273469.1:n.821-412_821-375dup
NM_152419.3:c.821-412_821-375dup MANE Select	NP_689632.2:n.821-412_821-375dup
NM_001363227.2:c.821-412_821-375dup	NP_001350156.1:n.821-412_821-375dup
NM_001363228.2:c.820+915_820+952dup	NP_001350157.1:n.820+915_820+952dup
NM_001363229.2:c.-14+915_-14+952dup	NP_001350158.1:n.-14+915_-14+952dup