Canonical Allele Identifier: CA404319292

Gene: GCDH

Linked Data

• dbSNP Id: rs200757991
• gnomAD v4: 19-12896918-C-G
• MyVariant Identifiers: chr19:g.13007732C>G (hg19) ; chr19:g.12896918C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896918C>G , CM000681.2:g.12896918C>G	GRCh38
NC_000019.9:g.13007732C>G , CM000681.1:g.13007732C>G	GRCh37
NC_000019.8:g.12868732C>G	NCBI36
NG_009292.1:g.10759C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.861C>G MANE Select	ENSP00000222214.4:p.Phe287Leu
ENST00000222214.9:c.861C>G	ENSP00000222214.4:p.Phe287Leu
ENST00000421816.6:n.839C>G
ENST00000585420.5:n.1191C>G
ENST00000590530.5:c.*301C>G	ENSP00000468452.1:n.*301C>G
ENST00000591043.1:n.897C>G
ENST00000591470.5:c.861C>G	ENSP00000466845.1:p.Phe287Leu
NM_000159.3:c.861C>G	NP_000150.1:p.Phe287Leu
NM_013976.3:c.861C>G	NP_039663.1:p.Phe287Leu
NR_102316.1:n.1024C>G
NR_102317.1:n.1242C>G
XM_006722721.2:c.861C>G	XP_006722784.1:p.Phe287Leu
XM_011527899.1:c.861C>G	XP_011526201.1:p.Phe287Leu
XM_011527900.1:c.861C>G	XP_011526202.1:p.Phe287Leu
XM_011527899.2:c.861C>G	XP_011526201.1:p.Phe287Leu
XM_011527900.2:c.861C>G	XP_011526202.1:p.Phe287Leu
XM_017026580.1:c.861C>G	XP_016882069.1:p.Phe287Leu
NM_000159.4:c.861C>G MANE Select	NP_000150.1:p.Phe287Leu
NM_013976.4:c.861C>G	NP_039663.1:p.Phe287Leu
NM_013976.5:c.861C>G	NP_039663.1:p.Phe287Leu