Canonical Allele Identifier: CA505648368
Gene: GCDH HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.13007777T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12896963T>G , CM000681.2:g.12896963T>G GRCh38
NC_000019.9:g.13007777T>G , CM000681.1:g.13007777T>G GRCh37
NC_000019.8:g.12868777T>G NCBI36
NG_009292.1:g.10804T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.906T>G MANE Select ENSP00000222214.4:p.Leu302=
ENST00000222214.9:c.906T>G ENSP00000222214.4:p.Leu302=
ENST00000421816.6:n.884T>G
ENST00000585420.5:n.1236T>G
ENST00000590530.5:c.*346T>G ENSP00000468452.1:n.*346T>G
ENST00000591043.1:n.942T>G
ENST00000591470.5:c.906T>G ENSP00000466845.1:p.Leu302=
NM_000159.3:c.906T>G NP_000150.1:p.Leu302=
NM_013976.3:c.906T>G NP_039663.1:p.Leu302=
NR_102316.1:n.1069T>G
NR_102317.1:n.1287T>G
XM_006722721.2:c.906T>G XP_006722784.1:p.Leu302=
XM_011527899.1:c.906T>G XP_011526201.1:p.Leu302=
XM_011527900.1:c.906T>G XP_011526202.1:p.Leu302=
XM_011527899.2:c.906T>G XP_011526201.1:p.Leu302=
XM_011527900.2:c.906T>G XP_011526202.1:p.Leu302=
XM_017026580.1:c.906T>G XP_016882069.1:p.Leu302=
NM_000159.4:c.906T>G MANE Select NP_000150.1:p.Leu302=
NM_013976.4:c.906T>G NP_039663.1:p.Leu302=
NM_013976.5:c.906T>G NP_039663.1:p.Leu302=