Canonical Allele Identifier: CA9234440
Gene: GCDH HGNC NCBI

Linked Data

dbSNP Id: rs757533581

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12896102C>T , CM000681.2:g.12896102C>T GRCh38
NC_000019.9:g.13006916C>T , CM000681.1:g.13006916C>T GRCh37
NC_000019.8:g.12867916C>T NCBI36
NG_009292.1:g.9943C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000222214.10:c.616C>T MANE Select ENSP00000222214.4:p.Leu206Phe
ENST00000222214.9:c.616C>T ENSP00000222214.4:p.Leu206Phe
ENST00000421816.6:n.594C>T
ENST00000585420.5:n.981C>T
ENST00000590530.5:c.*56C>T ENSP00000468452.1:n.*56C>T
ENST00000591043.1:n.652C>T
ENST00000591470.5:c.616C>T ENSP00000466845.1:p.Leu206Phe
NM_000159.3:c.616C>T NP_000150.1:p.Leu206Phe
NM_013976.3:c.616C>T NP_039663.1:p.Leu206Phe
NR_102316.1:n.779C>T
NR_102317.1:n.1032C>T
XM_006722721.2:c.616C>T XP_006722784.1:p.Leu206Phe
XM_011527899.1:c.616C>T XP_011526201.1:p.Leu206Phe
XM_011527900.1:c.616C>T XP_011526202.1:p.Leu206Phe
XM_011527899.2:c.616C>T XP_011526201.1:p.Leu206Phe
XM_011527900.2:c.616C>T XP_011526202.1:p.Leu206Phe
XM_017026580.1:c.616C>T XP_016882069.1:p.Leu206Phe
NM_000159.4:c.616C>T MANE Select NP_000150.1:p.Leu206Phe
NM_013976.4:c.616C>T NP_039663.1:p.Leu206Phe
NM_013976.5:c.616C>T NP_039663.1:p.Leu206Phe