Canonical Allele Identifier: CA371120600

Gene: HGSNAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43197839G>C , CM000670.2:g.43197839G>C	GRCh38
NC_000008.10:g.43052982G>C , CM000670.1:g.43052982G>C	GRCh37
NC_000008.9:g.43172139G>C	NCBI36
NG_009552.1:g.62391G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_152419.3:c.1614-1G>C MANE Select	NP_689632.2:n.1614-1G>C
ENST00000379644.9:c.1614-1G>C MANE Select	ENSP00000368965.4:n.1614-1G>C
NM_001363227.1:c.1701-1G>C	NP_001350156.1:n.1701-1G>C
NM_001363227.2:c.1701-1G>C	NP_001350156.1:n.1701-1G>C
NM_001363228.1:c.1422-1G>C	NP_001350157.1:n.1422-1G>C
NM_001363228.2:c.1422-1G>C	NP_001350157.1:n.1422-1G>C
NM_001363229.1:c.750-1G>C	NP_001350158.1:n.750-1G>C
NM_001363229.2:c.750-1G>C	NP_001350158.1:n.750-1G>C
NM_152419.2:c.1614-1G>C	NP_689632.2:n.1614-1G>C
ENST00000379644.8:c.1614-1G>C	ENSP00000368965.4:n.1614-1G>C
ENST00000519705.1:n.930-1G>C
ENST00000521576.1:c.765-1G>C	ENSP00000429029.1:n.765-1G>C
ENST00000523989.1:n.1927-1G>C
XM_005273409.1:c.1725-1G>C	XP_005273466.1:n.1725-1G>C
XM_005273410.1:c.1701-1G>C	XP_005273467.1:n.1701-1G>C
XM_005273411.1:c.1533-1G>C	XP_005273468.1:n.1533-1G>C