Canonical Allele Identifier: CA404318431
Community Standard Title: NM_000159.4(GCDH):c.636G>A (p.Trp212Ter)
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12896205G>A , CM000681.2:g.12896205G>A GRCh38
NC_000019.9:g.13007019G>A , CM000681.1:g.13007019G>A GRCh37
NC_000019.8:g.12868019G>A NCBI36
NG_009292.1:g.10046G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000159.4:c.636G>A MANE Select NP_000150.1:p.Trp212Ter
ENST00000222214.10:c.636G>A MANE Select ENSP00000222214.4:p.Trp212Ter
NM_000159.3:c.636G>A NP_000150.1:p.Trp212Ter
NM_013976.3:c.636G>A NP_039663.1:p.Trp212Ter
NM_013976.4:c.636G>A NP_039663.1:p.Trp212Ter
NM_013976.5:c.636G>A NP_039663.1:p.Trp212Ter
NR_102316.1:n.799G>A
NR_102317.1:n.1052-35G>A
ENST00000222214.9:c.636G>A ENSP00000222214.4:p.Trp212Ter
ENST00000421816.6:n.614G>A
ENST00000585420.5:n.1001-35G>A
ENST00000590530.5:c.*76G>A ENSP00000468452.1:n.*76G>A
ENST00000591043.1:n.672G>A
ENST00000591470.5:c.636G>A ENSP00000466845.1:p.Trp212Ter
XM_006722721.2:c.636G>A XP_006722784.1:p.Trp212Ter
XM_011527899.1:c.636G>A XP_011526201.1:p.Trp212Ter
XM_011527899.2:c.636G>A XP_011526201.1:p.Trp212Ter
XM_011527900.1:c.636G>A XP_011526202.1:p.Trp212Ter
XM_011527900.2:c.636G>A XP_011526202.1:p.Trp212Ter
XM_017026580.1:c.636G>A XP_016882069.1:p.Trp212Ter