Canonical Allele Identifier: CA783406826

Gene: GCDH

Linked Data

• ClinVar Variation Id: 1066567
• ClinVar RCV Id: RCV001377591
• dbSNP Id: rs1377352983
• gnomAD v3: 19-12897832-C-CA
• gnomAD v4: 19-12897832-C-CA
• MyVariant Identifiers: chr19:g.13008646_13008647insA (hg19) ; chr19:g.12897832_12897833insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12897833dup , CM000681.2:g.12897833dup	GRCh38
NC_000019.9:g.13008647dup , CM000681.1:g.13008647dup	GRCh37
NC_000019.8:g.12869647dup	NCBI36
NG_009292.1:g.11674dup
NG_033049.1:g.26440dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.1213dup MANE Select	ENSP00000222214.4:p.Met405AsnfsTer14
ENST00000222214.9:c.1213dup	ENSP00000222214.4:p.Met405AsnfsTer14
ENST00000585420.5:n.1543dup
ENST00000590472.5:c.257dup
ENST00000590530.5:c.*653dup	ENSP00000468452.1:n.*653dup
ENST00000591043.1:n.1523dup
ENST00000591050.1:c.180dup
ENST00000591470.5:c.1213dup	ENSP00000466845.1:p.Met405AsnfsTer14
NM_000159.3:c.1213dup	NP_000150.1:p.Met405AsnfsTer14
NM_013976.3:c.1213dup	NP_039663.1:p.Met405AsnfsTer?
NR_102316.1:n.1376dup
NR_102317.1:n.1594dup
XM_006722721.2:c.1213dup	XP_006722784.1:p.Met405AsnfsTer?
XM_011527899.1:c.1213dup	XP_011526201.1:p.Met405AsnfsTer12
XM_011527900.1:c.1213dup	XP_011526202.1:p.Met405AsnfsTer?
XM_011527899.2:c.1213dup	XP_011526201.1:p.Met405AsnfsTer12
XM_011527900.2:c.1213dup	XP_011526202.1:p.Met405AsnfsTer?
XM_017026580.1:c.1213dup	XP_016882069.1:p.Met405AsnfsTer?
NM_000159.4:c.1213dup MANE Select	NP_000150.1:p.Met405AsnfsTer14
NM_013976.4:c.1213dup	NP_039663.1:p.Met405AsnfsTer?
NM_013976.5:c.1213dup	NP_039663.1:p.Met405AsnfsTer?