Canonical Allele Identifier: CA9234285

Gene: GCDH

Linked Data

• ClinVar Variation Id: 235597
• ClinVar RCV Id: RCV000224276 ; RCV001085163 ; RCV001699071
• dbSNP Id: rs75430014
• ExAC: 19:13002791 G / A
• gnomAD v2: 19-13002791-G-A
• gnomAD v3: 19-12891977-G-A
• gnomAD v4: 19-12891977-G-A
• MyVariant Identifiers: chr19:g.13002791G>A (hg19) ; chr19:g.12891977G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12891977G>A , CM000681.2:g.12891977G>A	GRCh38
NC_000019.9:g.13002791G>A , CM000681.1:g.13002791G>A	GRCh37
NC_000019.8:g.12863791G>A	NCBI36
NG_009292.1:g.5818G>A
NG_013087.1:g.227C>T

Transcript Alleles

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