Canonical Allele Identifier: CA404318334

Gene: GCDH

Linked Data

• dbSNP Id: rs1188061074
• gnomAD v2: 19-13006919-A-C
• gnomAD v4: 19-12896105-A-C
• MyVariant Identifiers: chr19:g.13006919A>C (hg19) ; chr19:g.12896105A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896105A>C , CM000681.2:g.12896105A>C	GRCh38
NC_000019.9:g.13006919A>C , CM000681.1:g.13006919A>C	GRCh37
NC_000019.8:g.12867919A>C	NCBI36
NG_009292.1:g.9946A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.619A>C MANE Select	ENSP00000222214.4:p.Asn207His
ENST00000222214.9:c.619A>C	ENSP00000222214.4:p.Asn207His
ENST00000421816.6:n.597A>C
ENST00000585420.5:n.984A>C
ENST00000590530.5:c.*59A>C	ENSP00000468452.1:n.*59A>C
ENST00000591043.1:n.655A>C
ENST00000591470.5:c.619A>C	ENSP00000466845.1:p.Asn207His
NM_000159.3:c.619A>C	NP_000150.1:p.Asn207His
NM_013976.3:c.619A>C	NP_039663.1:p.Asn207His
NR_102316.1:n.782A>C
NR_102317.1:n.1035A>C
XM_006722721.2:c.619A>C	XP_006722784.1:p.Asn207His
XM_011527899.1:c.619A>C	XP_011526201.1:p.Asn207His
XM_011527900.1:c.619A>C	XP_011526202.1:p.Asn207His
XM_011527899.2:c.619A>C	XP_011526201.1:p.Asn207His
XM_011527900.2:c.619A>C	XP_011526202.1:p.Asn207His
XM_017026580.1:c.619A>C	XP_016882069.1:p.Asn207His
NM_000159.4:c.619A>C MANE Select	NP_000150.1:p.Asn207His
NM_013976.4:c.619A>C	NP_039663.1:p.Asn207His
NM_013976.5:c.619A>C	NP_039663.1:p.Asn207His