Canonical Allele Identifier: CA349894339

Gene: HIBCH

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.941T>G MANE Select	NP_055177.2:p.Leu314Arg
ENST00000359678.10:c.941T>G MANE Select	ENSP00000352706.5:p.Leu314Arg
NM_014362.3:c.941T>G	NP_055177.2:p.Leu314Arg
NM_198047.2:c.941T>G	NP_932164.1:p.Leu314Arg
NM_198047.3:c.941T>G	NP_932164.1:p.Leu314Arg
ENST00000359678.9:c.941T>G	ENSP00000352706.5:p.Leu314Arg
ENST00000392332.7:c.941T>G	ENSP00000376144.3:p.Leu314Arg
ENST00000409820.2:c.281T>G	ENSP00000387098.2:p.Leu94Arg
ENST00000410045.5:c.272T>G	ENSP00000386274.1:p.Leu91Arg
ENST00000416732.5:c.194T>G	ENSP00000399263.1:p.Leu65Arg
ENST00000486981.1:n.210T>G
ENST00000489147.1:n.3084T>G
ENST00000622246.4:c.923T>G	ENSP00000481055.1:p.Leu308Arg
XM_011510953.1:c.941T>G	XP_011509255.1:p.Leu314Arg
XM_011510953.2:c.941T>G	XP_011509255.1:p.Leu314Arg
XM_011510954.1:c.443T>G	XP_011509256.1:p.Leu148Arg
XR_922903.1:n.1185T>G
XR_922903.2:n.1004T>G