Canonical Allele Identifier: CA2740090849

Gene: HMBS

Linked Data

• ClinVar Variation Id: 2965927
• ClinVar RCV Id: RCV003826077

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119085076G>C , CM000673.2:g.119085076G>C	GRCh38
NC_000011.9:g.118955786G>C , CM000673.1:g.118955786G>C	GRCh37
NC_000011.8:g.118460996G>C	NCBI36
NG_008093.1:g.5200G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442944.7:c.33+10G>C	ENSP00000392041.3:n.33+10G>C
ENST00000534956.2:n.36+10G>C
ENST00000536813.6:c.-102+10G>C	ENSP00000438726.2:n.-102+10G>C
ENST00000546302.6:c.33+10G>C	ENSP00000445599.1:n.33+10G>C
ENST00000640813.1:c.-19+10G>C	ENSP00000491061.1:n.-19+10G>C
ENST00000648026.1:c.27+10G>C	ENSP00000498044.1:n.27+10G>C
ENST00000649868.1:c.33+10G>C	ENSP00000497548.1:n.33+10G>C
ENST00000652429.1:c.33+10G>C MANE Select	ENSP00000498786.1:n.33+10G>C
ENST00000278715.7:c.33+10G>C	ENSP00000278715.3:n.33+10G>C
ENST00000442944.6:c.-102+10G>C	ENSP00000392041.2:n.-102+10G>C
ENST00000535793.5:c.33+10G>C	ENSP00000439904.1:n.33+10G>C
ENST00000536185.5:n.201+10G>C
ENST00000536813.5:c.33+10G>C	ENSP00000438726.1:n.33+10G>C
ENST00000537841.5:c.-100G>C	ENSP00000444730.1:n.-100G>C
ENST00000542044.5:n.158+10G>C
ENST00000542729.5:c.-100G>C	ENSP00000443058.1:n.-100G>C
ENST00000542822.5:c.43G>C	ENSP00000444817.1:p.Glu15Gln
ENST00000543090.5:c.33+10G>C	ENSP00000445429.1:n.33+10G>C
ENST00000543821.5:n.179+10G>C
ENST00000544387.5:c.33+10G>C	ENSP00000438424.1:n.33+10G>C
ENST00000545621.5:c.33+10G>C	ENSP00000444849.1:n.33+10G>C
ENST00000545901.5:n.186+10G>C
ENST00000546302.5:c.33+10G>C	ENSP00000445599.1:n.33+10G>C
NM_000190.3:c.33+10G>C	NP_000181.2:n.33+10G>C
NM_001258208.1:c.33+10G>C	NP_001245137.1:n.33+10G>C
NM_001258209.1:c.-100G>C	NP_001245138.1:n.-100G>C
XM_005271531.1:c.-100G>C	XP_005271588.1:n.-100G>C
XM_005271532.1:c.-76G>C	XP_005271589.1:n.-76G>C
XM_005271533.2:c.33+10G>C	XP_005271590.1:n.33+10G>C
NM_000190.4:c.33+10G>C MANE Select	NP_000181.2:n.33+10G>C
XM_005271533.3:c.33+10G>C	XP_005271590.1:n.33+10G>C
XM_024448460.1:c.33+10G>C	XP_024304228.1:n.33+10G>C
NM_001258208.2:c.33+10G>C	NP_001245137.1:n.33+10G>C
NM_001258209.2:c.-100G>C	NP_001245138.1:n.-100G>C