Canonical Allele Identifier: CA430318938

Gene: HIBCH

Linked Data

• dbSNP Id: rs1690358964
• MyVariant Identifiers: chr2:g.191069879G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205153G>A , CM000664.2:g.190205153G>A	GRCh38
NC_000002.11:g.191069879G>A , CM000664.1:g.191069879G>A	GRCh37
NC_000002.10:g.190778124G>A	NCBI36
NG_017062.1:g.119893C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359678.10:c.1125C>T MANE Select	ENSP00000352706.5:p.His375=
ENST00000359678.9:c.1125C>T	ENSP00000352706.5:p.His375=
ENST00000392332.7:c.*74C>T	ENSP00000376144.3:n.*74C>T
ENST00000399855.2:c.80C>T
ENST00000410045.5:c.456C>T	ENSP00000386274.1:p.His152=
ENST00000486981.1:n.360C>T
ENST00000622246.4:c.1107C>T	ENSP00000481055.1:p.His369=
NM_014362.3:c.1125C>T	NP_055177.2:p.His375=
NM_198047.2:c.*74C>T	NP_932164.1:n.*74C>T
XM_011510953.1:c.1125C>T	XP_011509255.1:p.His375=
XM_011510954.1:c.627C>T	XP_011509256.1:p.His209=
XR_922903.1:n.1335C>T
XM_011510953.2:c.1125C>T	XP_011509255.1:p.His375=
XR_922903.2:n.1154C>T
NM_014362.4:c.1125C>T MANE Select	NP_055177.2:p.His375=
NM_198047.3:c.*74C>T	NP_932164.1:n.*74C>T