Canonical Allele Identifier: CA404318138

Gene: GCDH

Linked Data

• ClinVar Variation Id: 1705686
• ClinVar RCV Id: RCV002284000
• MyVariant Identifiers: chr19:g.13006872T>G (hg19) ; chr19:g.12896058T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896058T>G , CM000681.2:g.12896058T>G	GRCh38
NC_000019.9:g.13006872T>G , CM000681.1:g.13006872T>G	GRCh37
NC_000019.8:g.12867872T>G	NCBI36
NG_009292.1:g.9899T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.572T>G MANE Select	ENSP00000222214.4:p.Met191Arg
ENST00000222214.9:c.572T>G	ENSP00000222214.4:p.Met191Arg
ENST00000421816.6:n.550T>G
ENST00000585420.5:n.937T>G
ENST00000590530.5:c.*12T>G	ENSP00000468452.1:n.*12T>G
ENST00000591043.1:n.608T>G
ENST00000591470.5:c.572T>G	ENSP00000466845.1:p.Met191Arg
NM_000159.3:c.572T>G	NP_000150.1:p.Met191Arg
NM_013976.3:c.572T>G	NP_039663.1:p.Met191Arg
NR_102316.1:n.735T>G
NR_102317.1:n.988T>G
XM_006722721.2:c.572T>G	XP_006722784.1:p.Met191Arg
XM_011527899.1:c.572T>G	XP_011526201.1:p.Met191Arg
XM_011527900.1:c.572T>G	XP_011526202.1:p.Met191Arg
XM_011527899.2:c.572T>G	XP_011526201.1:p.Met191Arg
XM_011527900.2:c.572T>G	XP_011526202.1:p.Met191Arg
XM_017026580.1:c.572T>G	XP_016882069.1:p.Met191Arg
NM_000159.4:c.572T>G MANE Select	NP_000150.1:p.Met191Arg
NM_013976.4:c.572T>G	NP_039663.1:p.Met191Arg
NM_013976.5:c.572T>G	NP_039663.1:p.Met191Arg