Canonical Allele Identifier: CA8186765

Gene: GCSH

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81087592A>C , CM000678.2:g.81087592A>C	GRCh38
NC_000016.9:g.81121197A>C , CM000678.1:g.81121197A>C	GRCh37
NC_000016.8:g.79678698A>C	NCBI36
NG_016427.1:g.13784T>G , LRG_541:g.13784T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004483.5:c.292+9T>G MANE Select	NP_004474.2:n.292+9T>G
ENST00000315467.9:c.292+9T>G MANE Select	ENSP00000319531.3:n.292+9T>G
NM_004483.4:c.292+9T>G , LRG_541t1:c.292+9T>G	NP_004474.2:n.292+9T>G
NR_033249.1:n.326-2998T>G
NR_033249.2:n.346-2998T>G
ENST00000315467.7:c.292+9T>G	ENSP00000319531.3:n.292+9T>G
ENST00000561801.1:c.128-2998T>G
ENST00000561801.2:c.128-2998T>G	ENSP00000457645.2:n.128-2998T>G
ENST00000564386.5:c.213-2998T>G
ENST00000564386.6:c.216-2998T>G
ENST00000564477.1:c.*250+9T>G	ENSP00000455287.1:n.*250+9T>G
ENST00000564536.2:c.292+9T>G	ENSP00000491651.1:n.292+9T>G
ENST00000566566.1:c.292+9T>G	ENSP00000455019.1:n.292+9T>G
ENST00000566566.2:c.177+9T>G
ENST00000569885.5:c.190+3009T>G
ENST00000569885.6:c.190+3009T>G
ENST00000638192.1:c.131+8539T>G
ENST00000638948.1:c.247+9T>G	ENSP00000491484.1:n.247+9T>G
ENST00000639137.1:n.725+9T>G
ENST00000639169.1:c.292+9T>G	ENSP00000491127.1:n.292+9T>G
ENST00000639689.1:c.*35+9T>G	ENSP00000492187.1:n.*35+9T>G
ENST00000640150.1:c.132+9T>G
ENST00000640345.1:c.292+9T>G	ENSP00000492798.1:n.292+9T>G
ENST00000640370.1:c.292+9T>G	ENSP00000492599.1:n.292+9T>G
XM_017023136.2:c.292+9T>G	XP_016878625.1:n.292+9T>G
XM_017023137.1:c.238+9T>G	XP_016878626.1:n.238+9T>G