Canonical Allele Identifier: CA404315953

Gene: GCDH

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.12892144G>C , CM000681.2:g.12892144G>C	GRCh38
NC_000019.9:g.13002958G>C , CM000681.1:g.13002958G>C	GRCh37
NC_000019.8:g.12863958G>C	NCBI36
NG_009292.1:g.5985G>C
NG_013087.1:g.60C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000159.4:c.300G>C MANE Select	NP_000150.1:p.Met100Ile
ENST00000222214.10:c.300G>C MANE Select	ENSP00000222214.4:p.Met100Ile
NM_000159.3:c.300G>C	NP_000150.1:p.Met100Ile
NM_013976.3:c.300G>C	NP_039663.1:p.Met100Ile
NM_013976.4:c.300G>C	NP_039663.1:p.Met100Ile
NM_013976.5:c.300G>C	NP_039663.1:p.Met100Ile
NR_102316.1:n.379+170G>C
NR_102317.1:n.716G>C
ENST00000222214.9:c.300G>C	ENSP00000222214.4:p.Met100Ile
ENST00000421816.6:n.312+170G>C
ENST00000585420.5:n.665G>C
ENST00000585760.5:n.336G>C
ENST00000587072.1:c.300G>C	ENSP00000468584.1:p.Met100Ile
ENST00000587832.5:n.357G>C
ENST00000588905.5:c.264G>C	ENSP00000465770.1:p.Met88Ile
ENST00000589039.5:c.271+170G>C	ENSP00000465618.1:n.271+170G>C
ENST00000590530.5:c.271+170G>C	ENSP00000468452.1:n.271+170G>C
ENST00000590627.5:n.665G>C
ENST00000591043.1:n.336G>C
ENST00000591470.5:c.300G>C	ENSP00000466845.1:p.Met100Ile
XM_006722721.2:c.300G>C	XP_006722784.1:p.Met100Ile
XM_011527899.1:c.300G>C	XP_011526201.1:p.Met100Ile
XM_011527899.2:c.300G>C	XP_011526201.1:p.Met100Ile
XM_011527900.1:c.300G>C	XP_011526202.1:p.Met100Ile
XM_011527900.2:c.300G>C	XP_011526202.1:p.Met100Ile
XM_017026580.1:c.300G>C	XP_016882069.1:p.Met100Ile