Canonical Allele Identifier: CA404321815

Gene: GCDH

Linked Data

• COSMIC: COSM1611601 ; COSM1611602 ; COSM3718091
• MyVariant Identifiers: chr19:g.13008651A>C (hg19) ; chr19:g.12897837A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12897837A>C , CM000681.2:g.12897837A>C	GRCh38
NC_000019.9:g.13008651A>C , CM000681.1:g.13008651A>C	GRCh37
NC_000019.8:g.12869651A>C	NCBI36
NG_009292.1:g.11678A>C
NG_033049.1:g.26436T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.1217A>C MANE Select	ENSP00000222214.4:p.Asn406Thr
ENST00000222214.9:c.1217A>C	ENSP00000222214.4:p.Asn406Thr
ENST00000585420.5:n.1547A>C
ENST00000590472.5:c.261A>C
ENST00000590530.5:c.*657A>C	ENSP00000468452.1:n.*657A>C
ENST00000591043.1:n.1527A>C
ENST00000591050.1:c.184A>C
ENST00000591470.5:c.1217A>C	ENSP00000466845.1:p.Asn406Thr
NM_000159.3:c.1217A>C	NP_000150.1:p.Asn406Thr
NM_013976.3:c.1217A>C	NP_039663.1:p.Asn406Thr
NR_102316.1:n.1380A>C
NR_102317.1:n.1598A>C
XM_006722721.2:c.1217A>C	XP_006722784.1:p.Asn406Thr
XM_011527899.1:c.1217A>C	XP_011526201.1:p.Asn406Thr
XM_011527900.1:c.1217A>C	XP_011526202.1:p.Asn406Thr
XM_011527899.2:c.1217A>C	XP_011526201.1:p.Asn406Thr
XM_011527900.2:c.1217A>C	XP_011526202.1:p.Asn406Thr
XM_017026580.1:c.1217A>C	XP_016882069.1:p.Asn406Thr
NM_000159.4:c.1217A>C MANE Select	NP_000150.1:p.Asn406Thr
NM_013976.4:c.1217A>C	NP_039663.1:p.Asn406Thr
NM_013976.5:c.1217A>C	NP_039663.1:p.Asn406Thr