Canonical Allele Identifier: CA2027426

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190213026A>G , CM000664.2:g.190213026A>G	GRCh38
NC_000002.11:g.191077752A>G , CM000664.1:g.191077752A>G	GRCh37
NC_000002.10:g.190785997A>G	NCBI36
NG_017062.1:g.112020T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.941T>C MANE Select	NP_055177.2:p.Leu314Pro
ENST00000359678.10:c.941T>C MANE Select	ENSP00000352706.5:p.Leu314Pro
NM_014362.3:c.941T>C	NP_055177.2:p.Leu314Pro
NM_198047.2:c.941T>C	NP_932164.1:p.Leu314Pro
NM_198047.3:c.941T>C	NP_932164.1:p.Leu314Pro
ENST00000359678.9:c.941T>C	ENSP00000352706.5:p.Leu314Pro
ENST00000392332.7:c.941T>C	ENSP00000376144.3:p.Leu314Pro
ENST00000409820.2:c.281T>C	ENSP00000387098.2:p.Leu94Pro
ENST00000410045.5:c.272T>C	ENSP00000386274.1:p.Leu91Pro
ENST00000416732.5:c.194T>C	ENSP00000399263.1:p.Leu65Pro
ENST00000486981.1:n.210T>C
ENST00000489147.1:n.3084T>C
ENST00000622246.4:c.923T>C	ENSP00000481055.1:p.Leu308Pro
XM_011510953.1:c.941T>C	XP_011509255.1:p.Leu314Pro
XM_011510953.2:c.941T>C	XP_011509255.1:p.Leu314Pro
XM_011510954.1:c.443T>C	XP_011509256.1:p.Leu148Pro
XR_922903.1:n.1185T>C
XR_922903.2:n.1004T>C