Canonical Allele Identifier: CA444849358

Gene: HEXB

Linked Data

• gnomAD v4: 5-74685348-C-T
• COSMIC: COSM1070011
• MyVariant Identifiers: chr5:g.73981173C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.74685348C>T , CM000667.2:g.74685348C>T	GRCh38
NC_000005.9:g.73981173C>T , CM000667.1:g.73981173C>T	GRCh37
NC_000005.8:g.74016929C>T	NCBI36
NG_009770.1:g.5205C>T
NG_009770.2:g.50326C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261416.12:c.88C>T MANE Select	ENSP00000261416.7:p.Leu30=
ENST00000261416.11:c.88C>T	ENSP00000261416.7:p.Leu30=
ENST00000511181.5:c.-376-3980C>T	ENSP00000426285.1:n.-376-3980C>T
ENST00000513079.5:n.153C>T
ENST00000515528.1:n.143C>T
NM_000521.3:c.88C>T	NP_000512.1:p.Leu30=
NM_001292004.1:c.-376-3980C>T	NP_001278933.1:n.-376-3980C>T
NM_000521.4:c.88C>T MANE Select	NP_000512.2:p.Leu30=
NM_001292004.2:c.-376-3980C>T	NP_001278933.1:n.-376-3980C>T