Canonical Allele Identifier: CA382899815

Gene: HMBS

Linked Data

• MyVariant Identifiers: chr11:g.118963930G>C (hg19) ; chr11:g.119093220G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119093220G>C , CM000673.2:g.119093220G>C	GRCh38
NC_000011.9:g.118963930G>C , CM000673.1:g.118963930G>C	GRCh37
NC_000011.8:g.118469140G>C	NCBI36
NG_008093.1:g.13344G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000686218.1:c.858G>C	ENSP00000509288.1:p.Leu286Phe
ENST00000691144.1:n.3238G>C
ENST00000691249.1:n.1847G>C
ENST00000442944.7:c.1005G>C	ENSP00000392041.3:p.Leu335Phe
ENST00000640813.1:c.*260G>C	ENSP00000491061.1:n.*260G>C
ENST00000648026.1:c.917G>C	ENSP00000498044.1:n.917G>C
ENST00000648374.1:c.972G>C	ENSP00000497255.1:p.Leu324Phe
ENST00000650101.1:c.954G>C	ENSP00000496970.1:p.Leu318Phe
ENST00000650307.1:n.1849G>C
ENST00000652429.1:c.1023G>C MANE Select	ENSP00000498786.1:p.Leu341Phe
ENST00000278715.7:c.1023G>C	ENSP00000278715.3:p.Leu341Phe
ENST00000392841.1:c.972G>C	ENSP00000376584.1:p.Leu324Phe
ENST00000442944.6:c.972G>C	ENSP00000392041.2:p.Leu324Phe
ENST00000537841.5:c.972G>C	ENSP00000444730.1:p.Leu324Phe
ENST00000539045.1:n.522G>C
ENST00000542044.5:n.1468G>C
ENST00000542729.5:c.852G>C	ENSP00000443058.1:p.Leu284Phe
ENST00000543090.5:c.930G>C	ENSP00000445429.1:p.Leu310Phe
ENST00000543543.5:n.1498G>C
ENST00000544182.1:n.1472G>C
ENST00000544387.5:c.903G>C	ENSP00000438424.1:p.Leu301Phe
ENST00000546226.5:n.1785G>C
NM_000190.3:c.1023G>C	NP_000181.2:p.Leu341Phe
NM_001024382.1:c.972G>C	NP_001019553.1:p.Leu324Phe
NM_001258208.1:c.903G>C	NP_001245137.1:p.Leu301Phe
NM_001258209.1:c.852G>C	NP_001245138.1:p.Leu284Phe
XM_005271531.1:c.972G>C	XP_005271588.1:p.Leu324Phe
XM_005271532.1:c.972G>C	XP_005271589.1:p.Leu324Phe
XM_005271533.2:c.969G>C	XP_005271590.1:p.Leu323Phe
XM_011542796.1:c.858G>C	XP_011541098.1:p.Leu286Phe
NM_000190.4:c.1023G>C MANE Select	NP_000181.2:p.Leu341Phe
NM_001024382.2:c.972G>C	NP_001019553.1:p.Leu324Phe
XM_005271533.3:c.969G>C	XP_005271590.1:p.Leu323Phe
XM_017017629.1:c.972G>C	XP_016873118.1:p.Leu324Phe
XM_024448460.1:c.849G>C	XP_024304228.1:p.Leu283Phe
NM_001258208.2:c.903G>C	NP_001245137.1:p.Leu301Phe
NM_001258209.2:c.852G>C	NP_001245138.1:p.Leu284Phe