Canonical Allele Identifier: CA275381
Gene: GCDH HGNC NCBI

Linked Data

ClinVar Variation Id: 198396
dbSNP Id: rs149120354

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12896058T>C , CM000681.2:g.12896058T>C GRCh38
NC_000019.9:g.13006872T>C , CM000681.1:g.13006872T>C GRCh37
NC_000019.8:g.12867872T>C NCBI36
NG_009292.1:g.9899T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.572T>C MANE Select ENSP00000222214.4:p.Met191Thr
ENST00000222214.9:c.572T>C ENSP00000222214.4:p.Met191Thr
ENST00000421816.6:n.550T>C
ENST00000585420.5:n.937T>C
ENST00000590530.5:c.*12T>C ENSP00000468452.1:n.*12T>C
ENST00000591043.1:n.608T>C
ENST00000591470.5:c.572T>C ENSP00000466845.1:p.Met191Thr
NM_000159.3:c.572T>C NP_000150.1:p.Met191Thr
NM_013976.3:c.572T>C NP_039663.1:p.Met191Thr
NR_102316.1:n.735T>C
NR_102317.1:n.988T>C
XM_006722721.2:c.572T>C XP_006722784.1:p.Met191Thr
XM_011527899.1:c.572T>C XP_011526201.1:p.Met191Thr
XM_011527900.1:c.572T>C XP_011526202.1:p.Met191Thr
XM_011527899.2:c.572T>C XP_011526201.1:p.Met191Thr
XM_011527900.2:c.572T>C XP_011526202.1:p.Met191Thr
XM_017026580.1:c.572T>C XP_016882069.1:p.Met191Thr
NM_000159.4:c.572T>C MANE Select NP_000150.1:p.Met191Thr
NM_013976.4:c.572T>C NP_039663.1:p.Met191Thr
NM_013976.5:c.572T>C NP_039663.1:p.Met191Thr