Canonical Allele Identifier: CA229597731

Gene: HMBS

Linked Data

• dbSNP Id: rs929694132
• gnomAD v3: 11-119093549-T-G
• gnomAD v4: 11-119093549-T-G
• MyVariant Identifiers: chr11:g.118964259T>G (hg19) ; chr11:g.119093549T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093549T>G , CM000673.2:g.119093549T>G	GRCh38
NC_000011.9:g.118964259T>G , CM000673.1:g.118964259T>G	GRCh37
NC_000011.8:g.118469469T>G	NCBI36
NG_008093.1:g.13673T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.*266T>G	ENSP00000509288.1:n.*266T>G
ENST00000652429.1:c.*266T>G MANE Select	ENSP00000498786.1:n.*266T>G
ENST00000392841.1:c.*266T>G	ENSP00000376584.1:n.*266T>G
NM_000190.3:c.*266T>G	NP_000181.2:n.*266T>G
NM_001024382.1:c.*266T>G	NP_001019553.1:n.*266T>G
NM_001258208.1:c.*266T>G	NP_001245137.1:n.*266T>G
NM_001258209.1:c.*266T>G	NP_001245138.1:n.*266T>G
XM_005271531.1:c.*266T>G	XP_005271588.1:n.*266T>G
XM_005271532.1:c.*266T>G	XP_005271589.1:n.*266T>G
XM_005271533.2:c.*266T>G	XP_005271590.1:n.*266T>G
XM_011542796.1:c.*266T>G	XP_011541098.1:n.*266T>G
NM_000190.4:c.*266T>G MANE Select	NP_000181.2:n.*266T>G
NM_001024382.2:c.*266T>G	NP_001019553.1:n.*266T>G
XM_005271533.3:c.*266T>G	XP_005271590.1:n.*266T>G
XM_017017629.1:c.*266T>G	XP_016873118.1:n.*266T>G
XM_024448460.1:c.*266T>G	XP_024304228.1:n.*266T>G
NM_001258208.2:c.*266T>G	NP_001245137.1:n.*266T>G
NM_001258209.2:c.*266T>G	NP_001245138.1:n.*266T>G