Canonical Allele Identifier: CA404319329

Gene: GCDH

Linked Data

• dbSNP Id: rs1240547310
• gnomAD v2: 19-13007743-A-G
• gnomAD v4: 19-12896929-A-G
• MyVariant Identifiers: chr19:g.13007743A>G (hg19) ; chr19:g.12896929A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896929A>G , CM000681.2:g.12896929A>G	GRCh38
NC_000019.9:g.13007743A>G , CM000681.1:g.13007743A>G	GRCh37
NC_000019.8:g.12868743A>G	NCBI36
NG_009292.1:g.10770A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.872A>G MANE Select	ENSP00000222214.4:p.Asn291Ser
ENST00000222214.9:c.872A>G	ENSP00000222214.4:p.Asn291Ser
ENST00000421816.6:n.850A>G
ENST00000585420.5:n.1202A>G
ENST00000590530.5:c.*312A>G	ENSP00000468452.1:n.*312A>G
ENST00000591043.1:n.908A>G
ENST00000591470.5:c.872A>G	ENSP00000466845.1:p.Asn291Ser
NM_000159.3:c.872A>G	NP_000150.1:p.Asn291Ser
NM_013976.3:c.872A>G	NP_039663.1:p.Asn291Ser
NR_102316.1:n.1035A>G
NR_102317.1:n.1253A>G
XM_006722721.2:c.872A>G	XP_006722784.1:p.Asn291Ser
XM_011527899.1:c.872A>G	XP_011526201.1:p.Asn291Ser
XM_011527900.1:c.872A>G	XP_011526202.1:p.Asn291Ser
XM_011527899.2:c.872A>G	XP_011526201.1:p.Asn291Ser
XM_011527900.2:c.872A>G	XP_011526202.1:p.Asn291Ser
XM_017026580.1:c.872A>G	XP_016882069.1:p.Asn291Ser
NM_000159.4:c.872A>G MANE Select	NP_000150.1:p.Asn291Ser
NM_013976.4:c.872A>G	NP_039663.1:p.Asn291Ser
NM_013976.5:c.872A>G	NP_039663.1:p.Asn291Ser