Canonical Allele Identifier: CA491475487
Gene: HEXA HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.72668191C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.72375850C>G , CM000677.2:g.72375850C>G GRCh38
NC_000015.9:g.72668191C>G , CM000677.1:g.72668191C>G GRCh37
NC_000015.8:g.70455245C>G NCBI36
NG_009017.1:g.5330G>C
NG_009017.2:g.5330G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000268097.10:c.123G>C MANE Select ENSP00000268097.6:p.Pro41=
ENST00000268097.9:c.123G>C ENSP00000268097.5:p.Pro41=
ENST00000379915.4:c.123G>C ENSP00000478716.1:p.Pro41=
ENST00000563762.5:n.123G>C ENSP00000456346.1:p.Pro41=
ENST00000563908.1:n.120G>C
ENST00000566304.5:c.123G>C ENSP00000455114.1:p.Pro41=
ENST00000566672.5:c.123G>C ENSP00000457037.1:p.Pro41=
ENST00000567159.5:c.123G>C ENSP00000456489.1:p.Pro41=
ENST00000567213.2:c.123G>C ENSP00000478217.1:p.Pro41=
ENST00000567411.5:c.123G>C ENSP00000455545.1:p.Pro41=
ENST00000568260.1:n.104G>C
ENST00000569410.5:c.123G>C ENSP00000457125.1:p.Pro41=
ENST00000569509.5:n.147-19G>C
NM_000520.4:c.123G>C NP_000511.2:p.Pro41=
NM_000520.5:c.123G>C NP_000511.2:p.Pro41=
NM_001318825.1:c.123G>C NP_001305754.1:p.Pro41=
NR_134869.1:n.624G>C
NM_000520.6:c.123G>C MANE Select NP_000511.2:p.Pro41=
NM_001318825.2:c.123G>C NP_001305754.1:p.Pro41=
NR_134869.2:n.165G>C
NR_134869.3:n.165G>C