Canonical Allele Identifier: CA349893010

Gene: HIBCH

Linked Data

• MyVariant Identifiers: chr2:g.191069857C>A (hg19) ; chr2:g.190205131C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205131C>A , CM000664.2:g.190205131C>A	GRCh38
NC_000002.11:g.191069857C>A , CM000664.1:g.191069857C>A	GRCh37
NC_000002.10:g.190778102C>A	NCBI36
NG_017062.1:g.119915G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359678.10:c.1147G>T MANE Select	ENSP00000352706.5:p.Asp383Tyr
ENST00000359678.9:c.1147G>T	ENSP00000352706.5:p.Asp383Tyr
ENST00000392332.7:c.*96G>T	ENSP00000376144.3:n.*96G>T
ENST00000399855.2:c.102G>T
ENST00000410045.5:c.478G>T	ENSP00000386274.1:p.Asp160Tyr
ENST00000486981.1:n.382G>T
ENST00000622246.4:c.1129G>T	ENSP00000481055.1:p.Asp377Tyr
NM_014362.3:c.1147G>T	NP_055177.2:p.Asp383Tyr
NM_198047.2:c.*96G>T	NP_932164.1:n.*96G>T
XM_011510953.1:c.1147G>T	XP_011509255.1:p.Asp383Tyr
XM_011510954.1:c.649G>T	XP_011509256.1:p.Asp217Tyr
XR_922903.1:n.1357G>T
XM_011510953.2:c.1147G>T	XP_011509255.1:p.Asp383Tyr
XR_922903.2:n.1176G>T
NM_014362.4:c.1147G>T MANE Select	NP_055177.2:p.Asp383Tyr
NM_198047.3:c.*96G>T	NP_932164.1:n.*96G>T