Canonical Allele Identifier: CA305500975

Gene: GCDH SYCE2

Linked Data

• dbSNP Id: rs970696781
• gnomAD v3: 19-12899345-C-T
• gnomAD v4: 19-12899345-C-T
• MyVariant Identifiers: chr19:g.13010159C>T (hg19) ; chr19:g.12899345C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12899345C>T , CM000681.2:g.12899345C>T	GRCh38
NC_000019.9:g.13010159C>T , CM000681.1:g.13010159C>T	GRCh37
NC_000019.8:g.12871159C>T	NCBI36
NG_009292.1:g.13186C>T
NG_033049.1:g.24928G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222214.10:c.1244-123C>T (GCDH) MANE Select	ENSP00000222214.4:n.1244-123C>T
ENST00000293695.8:c.653G>A (SYCE2) MANE Select	ENSP00000293695.6:p.Cys218Tyr
ENST00000222214.9:c.1244-123C>T (GCDH)	ENSP00000222214.4:n.1244-123C>T
ENST00000293695.7:c.653G>A (SYCE2)	ENSP00000293695.6:p.Cys218Tyr
ENST00000585420.5:n.1574-123C>T (GCDH)
ENST00000590530.5:c.*684-123C>T (GCDH)	ENSP00000468452.1:n.*684-123C>T
ENST00000591043.1:n.1554-123C>T (GCDH)
ENST00000591050.1:c.210+1482C>T (GCDH)
ENST00000591470.5:c.1244-123C>T (GCDH)	ENSP00000466845.1:n.1244-123C>T
ENST00000592819.1:c.226G>A (SYCE2)
NM_000159.3:c.1244-123C>T (GCDH)	NP_000150.1:n.1244-123C>T
NM_001105578.1:c.653G>A (SYCE2)	NP_001099048.1:p.Cys218Tyr
NM_013976.3:c.1244-355C>T (GCDH)	NP_039663.1:n.1244-355C>T
NR_102316.1:n.1407-123C>T (GCDH)
NR_102317.1:n.1625-123C>T (GCDH)
XM_005259848.3:c.*63G>A (SYCE2)	XP_005259905.1:n.*63G>A
XM_006722721.2:c.1244-889C>T (GCDH)	XP_006722784.1:n.1244-889C>T
XM_011527882.1:c.650G>A (SYCE2)	XP_011526184.1:p.Cys217Tyr
XM_011527883.1:c.*63G>A (SYCE2)	XP_011526185.1:n.*63G>A
XM_011527899.1:c.1243+1482C>T (GCDH)	XP_011526201.1:n.1243+1482C>T
XM_011527900.1:c.1244-889C>T (GCDH)	XP_011526202.1:n.1244-889C>T
XM_005259848.4:c.*63G>A (SYCE2)	XP_005259905.1:n.*63G>A
XM_011527882.2:c.650G>A (SYCE2)	XP_011526184.1:p.Cys217Tyr
XM_011527883.2:c.*63G>A (SYCE2)	XP_011526185.1:n.*63G>A
XM_011527899.2:c.1243+1482C>T (GCDH)	XP_011526201.1:n.1243+1482C>T
XM_011527900.2:c.1244-889C>T (GCDH)	XP_011526202.1:n.1244-889C>T
XM_017026580.1:c.1244-889C>T (GCDH)	XP_016882069.1:n.1244-889C>T
NM_000159.4:c.1244-123C>T (GCDH) MANE Select	NP_000150.1:n.1244-123C>T
NM_001105578.2:c.653G>A (SYCE2) MANE Select	NP_001099048.1:p.Cys218Tyr
NM_013976.4:c.1244-355C>T (GCDH)	NP_039663.1:n.1244-355C>T
NM_013976.5:c.1244-355C>T (GCDH)	NP_039663.1:n.1244-355C>T