Canonical Allele Identifier: CA382899747

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963925A>C (hg19) ; chr11:g.119093215A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093215A>C , CM000673.2:g.119093215A>C	GRCh38
NC_000011.9:g.118963925A>C , CM000673.1:g.118963925A>C	GRCh37
NC_000011.8:g.118469135A>C	NCBI36
NG_008093.1:g.13339A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.853A>C	ENSP00000509288.1:p.Asn285His
ENST00000691144.1:n.3233A>C
ENST00000691249.1:n.1842A>C
ENST00000442944.7:c.1000A>C	ENSP00000392041.3:p.Asn334His
ENST00000640813.1:c.*255A>C	ENSP00000491061.1:n.*255A>C
ENST00000648026.1:c.912A>C	ENSP00000498044.1:n.912A>C
ENST00000648374.1:c.967A>C	ENSP00000497255.1:p.Asn323His
ENST00000650101.1:c.949A>C	ENSP00000496970.1:p.Asn317His
ENST00000650307.1:n.1844A>C
ENST00000652429.1:c.1018A>C MANE Select	ENSP00000498786.1:p.Asn340His
ENST00000278715.7:c.1018A>C	ENSP00000278715.3:p.Asn340His
ENST00000392841.1:c.967A>C	ENSP00000376584.1:p.Asn323His
ENST00000442944.6:c.967A>C	ENSP00000392041.2:p.Asn323His
ENST00000537841.5:c.967A>C	ENSP00000444730.1:p.Asn323His
ENST00000539045.1:n.517A>C
ENST00000542044.5:n.1463A>C
ENST00000542729.5:c.847A>C	ENSP00000443058.1:p.Asn283His
ENST00000543090.5:c.925A>C	ENSP00000445429.1:p.Asn309His
ENST00000543543.5:n.1493A>C
ENST00000544182.1:n.1467A>C
ENST00000544387.5:c.898A>C	ENSP00000438424.1:p.Asn300His
ENST00000546226.5:n.1780A>C
NM_000190.3:c.1018A>C	NP_000181.2:p.Asn340His
NM_001024382.1:c.967A>C	NP_001019553.1:p.Asn323His
NM_001258208.1:c.898A>C	NP_001245137.1:p.Asn300His
NM_001258209.1:c.847A>C	NP_001245138.1:p.Asn283His
XM_005271531.1:c.967A>C	XP_005271588.1:p.Asn323His
XM_005271532.1:c.967A>C	XP_005271589.1:p.Asn323His
XM_005271533.2:c.964A>C	XP_005271590.1:p.Asn322His
XM_011542796.1:c.853A>C	XP_011541098.1:p.Asn285His
NM_000190.4:c.1018A>C MANE Select	NP_000181.2:p.Asn340His
NM_001024382.2:c.967A>C	NP_001019553.1:p.Asn323His
XM_005271533.3:c.964A>C	XP_005271590.1:p.Asn322His
XM_017017629.1:c.967A>C	XP_016873118.1:p.Asn323His
XM_024448460.1:c.844A>C	XP_024304228.1:p.Asn282His
NM_001258208.2:c.898A>C	NP_001245137.1:p.Asn300His
NM_001258209.2:c.847A>C	NP_001245138.1:p.Asn283His