Canonical Allele Identifier: CA274289
Gene: GCDH HGNC NCBI

Linked Data

ClinVar Variation Id: 189030
ClinVar RCV Id: RCV000169420 RCV000727581
dbSNP Id: rs786204639
gnomAD v4: 19-12891975-G-A
MyVariant Identifiers: chr19:g.13002789G>A (hg19) chr19:g.12891975G>A (hg38)
PubMed: PMID:11058907 PMID:22728054
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12891975G>A , CM000681.2:g.12891975G>A GRCh38
NC_000019.9:g.13002789G>A , CM000681.1:g.13002789G>A GRCh37
NC_000019.8:g.12863789G>A NCBI36
NG_009292.1:g.5816G>A
NG_013087.1:g.229C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000222214.10:c.271+1G>A MANE Select ENSP00000222214.4:n.271+1G>A
ENST00000222214.9:c.271+1G>A ENSP00000222214.4:n.271+1G>A
ENST00000421816.6:n.312+1G>A
ENST00000585420.5:n.636+1G>A
ENST00000585760.5:n.307+1G>A
ENST00000587072.1:c.271+1G>A ENSP00000468584.1:n.271+1G>A
ENST00000587832.5:n.328+1G>A
ENST00000588905.5:c.235+1G>A ENSP00000465770.1:n.235+1G>A
ENST00000589039.5:c.271+1G>A ENSP00000465618.1:n.271+1G>A
ENST00000590445.5:c.*148+1G>A ENSP00000468125.1:n.*148+1G>A
ENST00000590530.5:c.271+1G>A ENSP00000468452.1:n.271+1G>A
ENST00000590627.5:n.636+1G>A
ENST00000591043.1:n.307+1G>A
ENST00000591470.5:c.271+1G>A ENSP00000466845.1:n.271+1G>A
NM_000159.3:c.271+1G>A NP_000150.1:n.271+1G>A
NM_013976.3:c.271+1G>A NP_039663.1:n.271+1G>A
NR_102316.1:n.379+1G>A
NR_102317.1:n.687+1G>A
XM_006722721.2:c.271+1G>A XP_006722784.1:n.271+1G>A
XM_011527899.1:c.271+1G>A XP_011526201.1:n.271+1G>A
XM_011527900.1:c.271+1G>A XP_011526202.1:n.271+1G>A
XM_011527899.2:c.271+1G>A XP_011526201.1:n.271+1G>A
XM_011527900.2:c.271+1G>A XP_011526202.1:n.271+1G>A
XM_017026580.1:c.271+1G>A XP_016882069.1:n.271+1G>A
NM_000159.4:c.271+1G>A MANE Select NP_000150.1:n.271+1G>A
NM_013976.4:c.271+1G>A NP_039663.1:n.271+1G>A
NM_013976.5:c.271+1G>A NP_039663.1:n.271+1G>A
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