Canonical Allele Identifier: CA404315694
Community Standard Title: NM_000159.4(GCDH):c.272-2A>C
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12892114A>C , CM000681.2:g.12892114A>C GRCh38
NC_000019.9:g.13002928A>C , CM000681.1:g.13002928A>C GRCh37
NC_000019.8:g.12863928A>C NCBI36
NG_009292.1:g.5955A>C
NG_013087.1:g.90T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000159.4:c.272-2A>C MANE Select NP_000150.1:n.272-2A>C
ENST00000222214.10:c.272-2A>C MANE Select ENSP00000222214.4:n.272-2A>C
NM_000159.3:c.272-2A>C NP_000150.1:n.272-2A>C
NM_013976.3:c.272-2A>C NP_039663.1:n.272-2A>C
NM_013976.4:c.272-2A>C NP_039663.1:n.272-2A>C
NM_013976.5:c.272-2A>C NP_039663.1:n.272-2A>C
NR_102316.1:n.379+140A>C
NR_102317.1:n.688-2A>C
ENST00000222214.9:c.272-2A>C ENSP00000222214.4:n.272-2A>C
ENST00000421816.6:n.312+140A>C
ENST00000585420.5:n.637-2A>C
ENST00000585760.5:n.308-2A>C
ENST00000587072.1:c.272-2A>C ENSP00000468584.1:n.272-2A>C
ENST00000587832.5:n.329-2A>C
ENST00000588905.5:c.236-2A>C ENSP00000465770.1:n.236-2A>C
ENST00000589039.5:c.271+140A>C ENSP00000465618.1:n.271+140A>C
ENST00000590445.5:c.*149-2A>C ENSP00000468125.1:n.*149-2A>C
ENST00000590530.5:c.271+140A>C ENSP00000468452.1:n.271+140A>C
ENST00000590627.5:n.637-2A>C
ENST00000591043.1:n.308-2A>C
ENST00000591470.5:c.272-2A>C ENSP00000466845.1:n.272-2A>C
XM_006722721.2:c.272-2A>C XP_006722784.1:n.272-2A>C
XM_011527899.1:c.272-2A>C XP_011526201.1:n.272-2A>C
XM_011527899.2:c.272-2A>C XP_011526201.1:n.272-2A>C
XM_011527900.1:c.272-2A>C XP_011526202.1:n.272-2A>C
XM_011527900.2:c.272-2A>C XP_011526202.1:n.272-2A>C
XM_017026580.1:c.272-2A>C XP_016882069.1:n.272-2A>C