Canonical Allele Identifier: CA404317492
Community Standard Title: NM_000159.4(GCDH):c.411C>G (p.Tyr137Ter)
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12893559C>G , CM000681.2:g.12893559C>G GRCh38
NC_000019.9:g.13004373C>G , CM000681.1:g.13004373C>G GRCh37
NC_000019.8:g.12865373C>G NCBI36
NG_009292.1:g.7400C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000159.4:c.411C>G MANE Select NP_000150.1:p.Tyr137Ter
ENST00000222214.10:c.411C>G MANE Select ENSP00000222214.4:p.Tyr137Ter
NM_000159.3:c.411C>G NP_000150.1:p.Tyr137Ter
NM_013976.3:c.411C>G NP_039663.1:p.Tyr137Ter
NM_013976.4:c.411C>G NP_039663.1:p.Tyr137Ter
NM_013976.5:c.411C>G NP_039663.1:p.Tyr137Ter
NR_102316.1:n.574C>G
NR_102317.1:n.827C>G
ENST00000222214.9:c.411C>G ENSP00000222214.4:p.Tyr137Ter
ENST00000421816.6:n.389C>G
ENST00000585420.5:n.776C>G
ENST00000587832.5:n.468C>G
ENST00000588905.5:c.375C>G ENSP00000465770.1:p.Tyr125Ter
ENST00000589039.5:c.348C>G ENSP00000465618.1:p.Tyr116Ter
ENST00000590530.5:c.466C>G ENSP00000468452.1:p.Gln156Glu
ENST00000590627.5:n.776C>G
ENST00000591043.1:n.447C>G
ENST00000591470.5:c.411C>G ENSP00000466845.1:p.Tyr137Ter
XM_006722721.2:c.411C>G XP_006722784.1:p.Tyr137Ter
XM_011527899.1:c.411C>G XP_011526201.1:p.Tyr137Ter
XM_011527899.2:c.411C>G XP_011526201.1:p.Tyr137Ter
XM_011527900.1:c.411C>G XP_011526202.1:p.Tyr137Ter
XM_011527900.2:c.411C>G XP_011526202.1:p.Tyr137Ter
XM_017026580.1:c.411C>G XP_016882069.1:p.Tyr137Ter