Canonical Allele Identifier: CA382894663

Gene: HMBS

Linked Data

• ClinVar Variation Id: 2972692
• ClinVar RCV Id: RCV003837802
• MyVariant Identifiers: chr11:g.118962195G>C (hg19) ; chr11:g.119091485G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119091485G>C , CM000673.2:g.119091485G>C	GRCh38
NC_000011.9:g.118962195G>C , CM000673.1:g.118962195G>C	GRCh37
NC_000011.8:g.118467405G>C	NCBI36
NG_008093.1:g.11609G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.406G>C	ENSP00000509288.1:p.Ala136Pro
ENST00000686690.1:n.1421G>C
ENST00000691144.1:n.2312G>C
ENST00000691249.1:n.1155G>C
ENST00000442944.7:c.553G>C	ENSP00000392041.3:p.Ala185Pro
ENST00000534956.2:n.448-376G>C
ENST00000536813.6:c.520G>C	ENSP00000438726.2:p.Ala174Pro
ENST00000546302.6:c.493G>C	ENSP00000445599.1:p.Ala165Pro
ENST00000640813.1:c.448-376G>C	ENSP00000491061.1:n.448-376G>C
ENST00000648026.1:c.493-376G>C	ENSP00000498044.1:n.493-376G>C
ENST00000648374.1:c.520G>C	ENSP00000497255.1:p.Ala174Pro
ENST00000648488.1:c.*85+229G>C	ENSP00000498079.1:n.*85+229G>C
ENST00000649823.1:n.788G>C
ENST00000649868.1:c.*207-376G>C	ENSP00000497548.1:n.*207-376G>C
ENST00000650101.1:c.502G>C	ENSP00000496970.1:p.Ala168Pro
ENST00000650307.1:n.1397G>C
ENST00000652429.1:c.571G>C MANE Select	ENSP00000498786.1:p.Ala191Pro
ENST00000278715.7:c.571G>C	ENSP00000278715.3:p.Ala191Pro
ENST00000392841.1:c.520G>C	ENSP00000376584.1:p.Ala174Pro
ENST00000442944.6:c.520G>C	ENSP00000392041.2:p.Ala174Pro
ENST00000534956.1:n.415-376G>C
ENST00000535253.5:c.520G>C	ENSP00000442079.1:p.Ala174Pro
ENST00000535793.5:c.*466G>C	ENSP00000439904.1:n.*466G>C
ENST00000537841.5:c.520G>C	ENSP00000444730.1:p.Ala174Pro
ENST00000539986.5:c.520G>C	ENSP00000440092.1:p.Ala174Pro
ENST00000542044.5:n.1016G>C
ENST00000542345.5:n.709G>C
ENST00000542729.5:c.520G>C	ENSP00000443058.1:p.Ala174Pro
ENST00000542822.5:c.*507G>C	ENSP00000444817.1:n.*507G>C
ENST00000543090.5:c.517G>C	ENSP00000445429.1:p.Ala173Pro
ENST00000543543.5:n.806G>C
ENST00000544360.5:n.539G>C
ENST00000544387.5:c.571G>C	ENSP00000438424.1:p.Ala191Pro
ENST00000545621.5:c.*466G>C	ENSP00000444849.1:n.*466G>C
ENST00000546226.5:n.859G>C
ENST00000546302.5:c.493G>C	ENSP00000445599.1:p.Ala165Pro
NM_000190.3:c.571G>C	NP_000181.2:p.Ala191Pro
NM_001024382.1:c.520G>C	NP_001019553.1:p.Ala174Pro
NM_001258208.1:c.571G>C	NP_001245137.1:p.Ala191Pro
NM_001258209.1:c.520G>C	NP_001245138.1:p.Ala174Pro
XM_005271531.1:c.520G>C	XP_005271588.1:p.Ala174Pro
XM_005271532.1:c.520G>C	XP_005271589.1:p.Ala174Pro
XM_005271533.2:c.517G>C	XP_005271590.1:p.Ala173Pro
XM_011542796.1:c.406G>C	XP_011541098.1:p.Ala136Pro
NM_000190.4:c.571G>C MANE Select	NP_000181.2:p.Ala191Pro
NM_001024382.2:c.520G>C	NP_001019553.1:p.Ala174Pro
XM_005271533.3:c.517G>C	XP_005271590.1:p.Ala173Pro
XM_017017629.1:c.520G>C	XP_016873118.1:p.Ala174Pro
XM_024448460.1:c.517G>C	XP_024304228.1:p.Ala173Pro
NM_001258208.2:c.571G>C	NP_001245137.1:p.Ala191Pro
NM_001258209.2:c.520G>C	NP_001245138.1:p.Ala174Pro