Canonical Allele Identifier: CA305500159
Community Standard Title: NM_000159.4(GCDH):c.91+5G>A
Gene: GCDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.12891400G>A , CM000681.2:g.12891400G>A GRCh38
NC_000019.9:g.13002214G>A , CM000681.1:g.13002214G>A GRCh37
NC_000019.8:g.12863214G>A NCBI36
NG_009292.1:g.5241G>A
NG_013087.1:g.804C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000159.4:c.91+5G>A MANE Select NP_000150.1:n.91+5G>A
ENST00000222214.10:c.91+5G>A MANE Select ENSP00000222214.4:n.91+5G>A
NM_000159.3:c.91+5G>A NP_000150.1:n.91+5G>A
NM_013976.3:c.91+5G>A NP_039663.1:n.91+5G>A
NM_013976.4:c.91+5G>A NP_039663.1:n.91+5G>A
NM_013976.5:c.91+5G>A NP_039663.1:n.91+5G>A
NR_102316.1:n.199+5G>A
NR_102317.1:n.199+5G>A
ENST00000222214.9:c.91+5G>A ENSP00000222214.4:n.91+5G>A
ENST00000421816.6:n.168+5G>A
ENST00000585420.5:n.148+5G>A
ENST00000585760.5:n.127+5G>A
ENST00000587072.1:c.91+5G>A ENSP00000468584.1:n.91+5G>A
ENST00000587832.5:n.148+5G>A
ENST00000588905.5:c.91+5G>A ENSP00000465770.1:n.91+5G>A
ENST00000589039.5:c.91+5G>A ENSP00000465618.1:n.91+5G>A
ENST00000590445.5:c.91+5G>A ENSP00000468125.1:n.91+5G>A
ENST00000590530.5:c.91+5G>A ENSP00000468452.1:n.91+5G>A
ENST00000590627.5:n.148+5G>A
ENST00000591043.1:n.127+5G>A
ENST00000591470.5:c.91+5G>A ENSP00000466845.1:n.91+5G>A
XM_006722721.2:c.91+5G>A XP_006722784.1:n.91+5G>A
XM_011527899.1:c.91+5G>A XP_011526201.1:n.91+5G>A
XM_011527899.2:c.91+5G>A XP_011526201.1:n.91+5G>A
XM_011527900.1:c.91+5G>A XP_011526202.1:n.91+5G>A
XM_011527900.2:c.91+5G>A XP_011526202.1:n.91+5G>A
XM_017026580.1:c.91+5G>A XP_016882069.1:n.91+5G>A