Canonical Allele Identifier: CA16041972
Gene: GCDH HGNC NCBI

Linked Data

ClinVar Variation Id: 371612
ClinVar RCV Id: RCV000410275
dbSNP Id: rs1057517410

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12896908A>G , CM000681.2:g.12896908A>G GRCh38
NC_000019.9:g.13007722A>G , CM000681.1:g.13007722A>G GRCh37
NC_000019.8:g.12868722A>G NCBI36
NG_009292.1:g.10749A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000222214.10:c.853-2A>G MANE Select ENSP00000222214.4:n.853-2A>G
ENST00000222214.9:c.853-2A>G ENSP00000222214.4:n.853-2A>G
ENST00000421816.6:n.831-2A>G
ENST00000585420.5:n.1183-2A>G
ENST00000590530.5:c.*293-2A>G ENSP00000468452.1:n.*293-2A>G
ENST00000591043.1:n.889-2A>G
ENST00000591470.5:c.853-2A>G ENSP00000466845.1:n.853-2A>G
NM_000159.3:c.853-2A>G NP_000150.1:n.853-2A>G
NM_013976.3:c.853-2A>G NP_039663.1:n.853-2A>G
NR_102316.1:n.1016-2A>G
NR_102317.1:n.1234-2A>G
XM_006722721.2:c.853-2A>G XP_006722784.1:n.853-2A>G
XM_011527899.1:c.853-2A>G XP_011526201.1:n.853-2A>G
XM_011527900.1:c.853-2A>G XP_011526202.1:n.853-2A>G
XM_011527899.2:c.853-2A>G XP_011526201.1:n.853-2A>G
XM_011527900.2:c.853-2A>G XP_011526202.1:n.853-2A>G
XM_017026580.1:c.853-2A>G XP_016882069.1:n.853-2A>G
NM_000159.4:c.853-2A>G MANE Select NP_000150.1:n.853-2A>G
NM_013976.4:c.853-2A>G NP_039663.1:n.853-2A>G
NM_013976.5:c.853-2A>G NP_039663.1:n.853-2A>G