Canonical Allele Identifier: CA9234217

Gene: GCDH

Linked Data

• dbSNP Id: rs761099433
• ExAC: 19:13002369 GC / G
• gnomAD v2: 19-13002369-GC-G
• gnomAD v3: 19-12891555-GC-G
• gnomAD v4: 19-12891555-GC-G
• MyVariant Identifiers: chr19:g.13002370del (hg19) ; chr19:g.12891556del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12891559del , CM000681.2:g.12891559del	GRCh38
NC_000019.9:g.13002373del , CM000681.1:g.13002373del	GRCh37
NC_000019.8:g.12863373del	NCBI36
NG_009292.1:g.5400del
NG_013087.1:g.648del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.127+37del MANE Select	ENSP00000222214.4:n.127+37del
ENST00000222214.9:c.127+37del	ENSP00000222214.4:n.127+37del
ENST00000421816.6:n.168+164del
ENST00000585420.5:n.221del
ENST00000585760.5:n.163+37del
ENST00000587072.1:c.127+37del	ENSP00000468584.1:n.127+37del
ENST00000587832.5:n.184+37del
ENST00000588905.5:c.91+164del	ENSP00000465770.1:n.91+164del
ENST00000589039.5:c.127+37del	ENSP00000465618.1:n.127+37del
ENST00000590445.5:c.164del	ENSP00000468125.1:p.Pro55LeufsTer?
ENST00000590530.5:c.127+37del	ENSP00000468452.1:n.127+37del
ENST00000590627.5:n.221del
ENST00000591043.1:n.163+37del
ENST00000591470.5:c.127+37del	ENSP00000466845.1:n.127+37del
NM_000159.3:c.127+37del	NP_000150.1:n.127+37del
NM_013976.3:c.127+37del	NP_039663.1:n.127+37del
NR_102316.1:n.235+37del
NR_102317.1:n.272del
XM_006722721.2:c.127+37del	XP_006722784.1:n.127+37del
XM_011527899.1:c.127+37del	XP_011526201.1:n.127+37del
XM_011527900.1:c.127+37del	XP_011526202.1:n.127+37del
XM_011527899.2:c.127+37del	XP_011526201.1:n.127+37del
XM_011527900.2:c.127+37del	XP_011526202.1:n.127+37del
XM_017026580.1:c.127+37del	XP_016882069.1:n.127+37del
NM_000159.4:c.127+37del MANE Select	NP_000150.1:n.127+37del
NM_013976.4:c.127+37del	NP_039663.1:n.127+37del
NM_013976.5:c.127+37del	NP_039663.1:n.127+37del