Canonical Allele Identifier: CA305500770
Gene: GCDH HGNC NCBI

Linked Data

dbSNP Id: rs947907575
MyVariant Identifiers: chr19:g.12897645T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12897645T>C , CM000681.2:g.12897645T>C GRCh38
NC_000019.9:g.13008459T>C , CM000681.1:g.13008459T>C GRCh37
NC_000019.8:g.12869459T>C NCBI36
NG_009292.1:g.11486T>C
NG_033049.1:g.26628A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000222214.10:c.1083-58T>C MANE Select ENSP00000222214.4:n.1083-58T>C
ENST00000222214.9:c.1083-58T>C ENSP00000222214.4:n.1083-58T>C
ENST00000585420.5:n.1413-58T>C
ENST00000590472.5:c.127-58T>C
ENST00000590530.5:c.*523-58T>C ENSP00000468452.1:n.*523-58T>C
ENST00000591043.1:n.1335T>C
ENST00000591050.1:c.50-58T>C
ENST00000591470.5:c.1083-58T>C ENSP00000466845.1:n.1083-58T>C
NM_000159.3:c.1083-58T>C NP_000150.1:n.1083-58T>C
NM_013976.3:c.1083-58T>C NP_039663.1:n.1083-58T>C
NR_102316.1:n.1246-58T>C
NR_102317.1:n.1464-58T>C
XM_006722721.2:c.1083-58T>C XP_006722784.1:n.1083-58T>C
XM_011527899.1:c.1083-58T>C XP_011526201.1:n.1083-58T>C
XM_011527900.1:c.1083-58T>C XP_011526202.1:n.1083-58T>C
XM_011527899.2:c.1083-58T>C XP_011526201.1:n.1083-58T>C
XM_011527900.2:c.1083-58T>C XP_011526202.1:n.1083-58T>C
XM_017026580.1:c.1083-58T>C XP_016882069.1:n.1083-58T>C
NM_000159.4:c.1083-58T>C MANE Select NP_000150.1:n.1083-58T>C
NM_013976.4:c.1083-58T>C NP_039663.1:n.1083-58T>C
NM_013976.5:c.1083-58T>C NP_039663.1:n.1083-58T>C