Canonical Allele Identifier: CA1315939294
Community Standard Title: NM_014362.4(HIBCH):c.935G= (p.Arg312=)
Gene: HIBCH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.190213032C= , CM000664.2:g.190213032C= GRCh38
NC_000002.11:g.191077758C= , CM000664.1:g.191077758C= GRCh37
NC_000002.10:g.190786003C= NCBI36
NG_017062.1:g.112014G=

Transcript Alleles

HGVS Amino-acid Change
NM_014362.4:c.935G= MANE Select NP_055177.2:p.Arg312=
ENST00000359678.10:c.935G= MANE Select ENSP00000352706.5:p.Arg312=
NM_014362.3:c.935G= NP_055177.2:p.Arg312=
NM_198047.2:c.935G= NP_932164.1:p.Arg312=
NM_198047.3:c.935G= NP_932164.1:p.Arg312=
ENST00000359678.9:c.935G= ENSP00000352706.5:p.Arg312=
ENST00000392332.7:c.935G= ENSP00000376144.3:p.Arg312=
ENST00000409820.2:c.275G= ENSP00000387098.2:p.Arg92=
ENST00000410045.5:c.266G= ENSP00000386274.1:p.Arg89=
ENST00000416732.5:c.188G= ENSP00000399263.1:p.Arg63=
ENST00000486981.1:n.204G=
ENST00000489147.1:n.3078G=
ENST00000622246.4:c.917G= ENSP00000481055.1:p.Arg306=
XM_011510953.1:c.935G= XP_011509255.1:p.Arg312=
XM_011510953.2:c.935G= XP_011509255.1:p.Arg312=
XM_011510954.1:c.437G= XP_011509256.1:p.Arg146=
XR_922903.1:n.1179G=
XR_922903.2:n.998G=