Canonical Allele Identifier: CA404317949

Gene: GCDH

Linked Data

• MyVariant Identifiers: chr19:g.13006821T>C (hg19) ; chr19:g.12896007T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12896007T>C , CM000681.2:g.12896007T>C	GRCh38
NC_000019.9:g.13006821T>C , CM000681.1:g.13006821T>C	GRCh37
NC_000019.8:g.12867821T>C	NCBI36
NG_009292.1:g.9848T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000222214.10:c.521T>C MANE Select	ENSP00000222214.4:p.Leu174Pro
ENST00000222214.9:c.521T>C	ENSP00000222214.4:p.Leu174Pro
ENST00000421816.6:n.499T>C
ENST00000585420.5:n.886T>C
ENST00000588905.5:c.485T>C	ENSP00000465770.1:p.Leu162Pro
ENST00000590530.5:c.576T>C	ENSP00000468452.1:p.Pro192=
ENST00000591043.1:n.557T>C
ENST00000591470.5:c.521T>C	ENSP00000466845.1:p.Leu174Pro
NM_000159.3:c.521T>C	NP_000150.1:p.Leu174Pro
NM_013976.3:c.521T>C	NP_039663.1:p.Leu174Pro
NR_102316.1:n.684T>C
NR_102317.1:n.937T>C
XM_006722721.2:c.521T>C	XP_006722784.1:p.Leu174Pro
XM_011527899.1:c.521T>C	XP_011526201.1:p.Leu174Pro
XM_011527900.1:c.521T>C	XP_011526202.1:p.Leu174Pro
XM_011527899.2:c.521T>C	XP_011526201.1:p.Leu174Pro
XM_011527900.2:c.521T>C	XP_011526202.1:p.Leu174Pro
XM_017026580.1:c.521T>C	XP_016882069.1:p.Leu174Pro
NM_000159.4:c.521T>C MANE Select	NP_000150.1:p.Leu174Pro
NM_013976.4:c.521T>C	NP_039663.1:p.Leu174Pro
NM_013976.5:c.521T>C	NP_039663.1:p.Leu174Pro