Canonical Allele Identifier: CA8186795

Gene: GCSH

Linked Data

• ClinVar Variation Id: 462901
• ClinVar RCV Id: RCV000540411 ; RCV001683562
• dbSNP Id: rs8177877
• ExAC: 16:81124216 T / C
• gnomAD v2: 16-81124216-T-C
• gnomAD v3: 16-81090611-T-C
• gnomAD v4: 16-81090611-T-C
• MyVariant Identifiers: chr16:g.81124216T>C (hg19) ; chr16:g.81090611T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.81090611T>C , CM000678.2:g.81090611T>C	GRCh38
NC_000016.9:g.81124216T>C , CM000678.1:g.81124216T>C	GRCh37
NC_000016.8:g.79681717T>C	NCBI36
NG_016427.1:g.10765A>G , LRG_541:g.10765A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000315467.9:c.218A>G MANE Select	ENSP00000319531.3:p.Asn73Ser
ENST00000561801.2:c.127+5520A>G	ENSP00000457645.2:n.127+5520A>G
ENST00000564386.6:c.205A>G
ENST00000564536.2:c.218A>G	ENSP00000491651.1:p.Asn73Ser
ENST00000566566.2:c.103A>G
ENST00000569885.6:c.180A>G
ENST00000638192.1:c.131+5520A>G
ENST00000638948.1:c.173A>G	ENSP00000491484.1:p.Asn58Ser
ENST00000639137.1:n.651A>G
ENST00000639169.1:c.218A>G	ENSP00000491127.1:p.Asn73Ser
ENST00000639689.1:c.149-2947A>G	ENSP00000492187.1:n.149-2947A>G
ENST00000640150.1:c.58A>G
ENST00000640345.1:c.218A>G	ENSP00000492798.1:p.Asn73Ser
ENST00000640370.1:c.218A>G	ENSP00000492599.1:p.Asn73Ser
ENST00000315467.7:c.218A>G	ENSP00000319531.3:p.Asn73Ser
ENST00000561801.1:c.127+5520A>G
ENST00000564386.5:c.202A>G
ENST00000564477.1:c.*176A>G	ENSP00000455287.1:n.*176A>G
ENST00000566566.1:c.218A>G	ENSP00000455019.1:p.Asn73Ser
ENST00000569885.5:c.180A>G
NM_004483.4:c.218A>G , LRG_541t1:c.218A>G	NP_004474.2:p.Asn73Ser
NR_033249.1:n.315A>G
XM_017023136.2:c.218A>G	XP_016878625.1:p.Asn73Ser
XM_017023137.1:c.164A>G	XP_016878626.1:p.Asn55Ser
NM_004483.5:c.218A>G MANE Select	NP_004474.2:p.Asn73Ser
NR_033249.2:n.335A>G