Canonical Allele Identifier: CA382897305

Gene: HMBS

Linked Data

• COSMIC: COSM3935339
• MyVariant Identifiers: chr11:g.118963143G>C (hg19) ; chr11:g.119092433G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092433G>C , CM000673.2:g.119092433G>C	GRCh38
NC_000011.9:g.118963143G>C , CM000673.1:g.118963143G>C	GRCh37
NC_000011.8:g.118468353G>C	NCBI36
NG_008093.1:g.12557G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000686218.1:c.516G>C	ENSP00000509288.1:p.Lys172Asn
ENST00000691144.1:n.2662G>C
ENST00000691249.1:n.1505G>C
ENST00000442944.7:c.663G>C	ENSP00000392041.3:p.Lys221Asn
ENST00000536813.6:c.630G>C	ENSP00000438726.2:p.Lys210Asn
ENST00000640813.1:c.491G>C	ENSP00000491061.1:p.Arg164Thr
ENST00000648026.1:c.575G>C	ENSP00000498044.1:p.Arg192Thr
ENST00000648374.1:c.630G>C	ENSP00000497255.1:p.Lys210Asn
ENST00000649823.1:n.1138G>C
ENST00000650101.1:c.612G>C	ENSP00000496970.1:p.Lys204Asn
ENST00000650307.1:n.1507G>C
ENST00000652429.1:c.681G>C MANE Select	ENSP00000498786.1:p.Lys227Asn
ENST00000278715.7:c.681G>C	ENSP00000278715.3:p.Lys227Asn
ENST00000392841.1:c.630G>C	ENSP00000376584.1:p.Lys210Asn
ENST00000442944.6:c.630G>C	ENSP00000392041.2:p.Lys210Asn
ENST00000537841.5:c.630G>C	ENSP00000444730.1:p.Lys210Asn
ENST00000542044.5:n.1126G>C
ENST00000542729.5:c.600+270G>C	ENSP00000443058.1:n.600+270G>C
ENST00000543090.5:c.588G>C	ENSP00000445429.1:p.Lys196Asn
ENST00000543543.5:n.1156G>C
ENST00000544182.1:n.896G>C
ENST00000544387.5:c.651+270G>C	ENSP00000438424.1:n.651+270G>C
ENST00000545621.5:c.*816G>C	ENSP00000444849.1:n.*816G>C
ENST00000546226.5:n.1209G>C
NM_000190.3:c.681G>C	NP_000181.2:p.Lys227Asn
NM_001024382.1:c.630G>C	NP_001019553.1:p.Lys210Asn
NM_001258208.1:c.651+270G>C	NP_001245137.1:n.651+270G>C
NM_001258209.1:c.600+270G>C	NP_001245138.1:n.600+270G>C
XM_005271531.1:c.630G>C	XP_005271588.1:p.Lys210Asn
XM_005271532.1:c.630G>C	XP_005271589.1:p.Lys210Asn
XM_005271533.2:c.627G>C	XP_005271590.1:p.Lys209Asn
XM_011542796.1:c.516G>C	XP_011541098.1:p.Lys172Asn
NM_000190.4:c.681G>C MANE Select	NP_000181.2:p.Lys227Asn
NM_001024382.2:c.630G>C	NP_001019553.1:p.Lys210Asn
XM_005271533.3:c.627G>C	XP_005271590.1:p.Lys209Asn
XM_017017629.1:c.630G>C	XP_016873118.1:p.Lys210Asn
XM_024448460.1:c.597+270G>C	XP_024304228.1:n.597+270G>C
NM_001258208.2:c.651+270G>C	NP_001245137.1:n.651+270G>C
NM_001258209.2:c.600+270G>C	NP_001245138.1:n.600+270G>C