Canonical Allele Identifier: CA382985844

Gene: HMBS

Linked Data

• ClinVar Variation Id: 1444
• ClinVar RCV Id: RCV000001509 ; RCV002512651
• dbSNP Id: rs1565750784
• MyVariant Identifiers: chr11:g.118955777G>T (hg19) ; chr11:g.119085067G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119085067G>T , CM000673.2:g.119085067G>T	GRCh38
NC_000011.9:g.118955777G>T , CM000673.1:g.118955777G>T	GRCh37
NC_000011.8:g.118460987G>T	NCBI36
NG_008093.1:g.5191G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000442944.7:c.33+1G>T	ENSP00000392041.3:n.33+1G>T
ENST00000534956.2:n.36+1G>T
ENST00000536813.6:c.-102+1G>T	ENSP00000438726.2:n.-102+1G>T
ENST00000546302.6:c.33+1G>T	ENSP00000445599.1:n.33+1G>T
ENST00000640813.1:c.-19+1G>T	ENSP00000491061.1:n.-19+1G>T
ENST00000648026.1:c.27+1G>T	ENSP00000498044.1:n.27+1G>T
ENST00000649868.1:c.33+1G>T	ENSP00000497548.1:n.33+1G>T
ENST00000652429.1:c.33+1G>T MANE Select	ENSP00000498786.1:n.33+1G>T
ENST00000278715.7:c.33+1G>T	ENSP00000278715.3:n.33+1G>T
ENST00000442944.6:c.-102+1G>T	ENSP00000392041.2:n.-102+1G>T
ENST00000535793.5:c.33+1G>T	ENSP00000439904.1:n.33+1G>T
ENST00000536185.5:n.201+1G>T
ENST00000536813.5:c.33+1G>T	ENSP00000438726.1:n.33+1G>T
ENST00000537841.5:c.-109G>T	ENSP00000444730.1:n.-109G>T
ENST00000542044.5:n.158+1G>T
ENST00000542729.5:c.-109G>T	ENSP00000443058.1:n.-109G>T
ENST00000542822.5:c.34G>T	ENSP00000444817.1:p.Val12Leu
ENST00000543090.5:c.33+1G>T	ENSP00000445429.1:n.33+1G>T
ENST00000543821.5:n.179+1G>T
ENST00000544387.5:c.33+1G>T	ENSP00000438424.1:n.33+1G>T
ENST00000545621.5:c.33+1G>T	ENSP00000444849.1:n.33+1G>T
ENST00000545901.5:n.186+1G>T
ENST00000546302.5:c.33+1G>T	ENSP00000445599.1:n.33+1G>T
NM_000190.3:c.33+1G>T	NP_000181.2:n.33+1G>T
NM_001258208.1:c.33+1G>T	NP_001245137.1:n.33+1G>T
NM_001258209.1:c.-109G>T	NP_001245138.1:n.-109G>T
XM_005271531.1:c.-109G>T	XP_005271588.1:n.-109G>T
XM_005271532.1:c.-85G>T	XP_005271589.1:n.-85G>T
XM_005271533.2:c.33+1G>T	XP_005271590.1:n.33+1G>T
NM_000190.4:c.33+1G>T MANE Select	NP_000181.2:n.33+1G>T
XM_005271533.3:c.33+1G>T	XP_005271590.1:n.33+1G>T
XM_024448460.1:c.33+1G>T	XP_024304228.1:n.33+1G>T
NM_001258208.2:c.33+1G>T	NP_001245137.1:n.33+1G>T
NM_001258209.2:c.-109G>T	NP_001245138.1:n.-109G>T