Canonical Allele Identifier: CA382898826

Gene: HMBS

Linked Data

• gnomAD v4: 11-119092978-G-C
• MyVariant Identifiers: chr11:g.118963688G>C (hg19) ; chr11:g.119092978G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119092978G>C , CM000673.2:g.119092978G>C	GRCh38
NC_000011.9:g.118963688G>C , CM000673.1:g.118963688G>C	GRCh37
NC_000011.8:g.118468898G>C	NCBI36
NG_008093.1:g.13102G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.704G>C	ENSP00000509288.1:p.Ser235Thr
ENST00000691144.1:n.3084G>C
ENST00000691249.1:n.1693G>C
ENST00000442944.7:c.851G>C	ENSP00000392041.3:p.Ser284Thr
ENST00000640813.1:c.*106G>C	ENSP00000491061.1:n.*106G>C
ENST00000648026.1:c.763G>C	ENSP00000498044.1:n.763G>C
ENST00000648374.1:c.818G>C	ENSP00000497255.1:p.Ser273Thr
ENST00000650101.1:c.800G>C	ENSP00000496970.1:p.Ser267Thr
ENST00000650307.1:n.1695G>C
ENST00000652429.1:c.869G>C MANE Select	ENSP00000498786.1:p.Ser290Thr
ENST00000278715.7:c.869G>C	ENSP00000278715.3:p.Ser290Thr
ENST00000392841.1:c.818G>C	ENSP00000376584.1:p.Ser273Thr
ENST00000442944.6:c.818G>C	ENSP00000392041.2:p.Ser273Thr
ENST00000537841.5:c.818G>C	ENSP00000444730.1:p.Ser273Thr
ENST00000539045.1:n.368G>C
ENST00000542044.5:n.1314G>C
ENST00000542729.5:c.698G>C	ENSP00000443058.1:p.Ser233Thr
ENST00000543090.5:c.776G>C	ENSP00000445429.1:p.Ser259Thr
ENST00000543543.5:n.1344G>C
ENST00000544182.1:n.1318G>C
ENST00000544387.5:c.749G>C	ENSP00000438424.1:p.Ser250Thr
ENST00000546226.5:n.1631G>C
NM_000190.3:c.869G>C	NP_000181.2:p.Ser290Thr
NM_001024382.1:c.818G>C	NP_001019553.1:p.Ser273Thr
NM_001258208.1:c.749G>C	NP_001245137.1:p.Ser250Thr
NM_001258209.1:c.698G>C	NP_001245138.1:p.Ser233Thr
XM_005271531.1:c.818G>C	XP_005271588.1:p.Ser273Thr
XM_005271532.1:c.818G>C	XP_005271589.1:p.Ser273Thr
XM_005271533.2:c.815G>C	XP_005271590.1:p.Ser272Thr
XM_011542796.1:c.704G>C	XP_011541098.1:p.Ser235Thr
NM_000190.4:c.869G>C MANE Select	NP_000181.2:p.Ser290Thr
NM_001024382.2:c.818G>C	NP_001019553.1:p.Ser273Thr
XM_005271533.3:c.815G>C	XP_005271590.1:p.Ser272Thr
XM_017017629.1:c.818G>C	XP_016873118.1:p.Ser273Thr
XM_024448460.1:c.695G>C	XP_024304228.1:p.Ser232Thr
NM_001258208.2:c.749G>C	NP_001245137.1:p.Ser250Thr
NM_001258209.2:c.698G>C	NP_001245138.1:p.Ser233Thr