Canonical Allele Identifier: CA618961236

Gene: HEXA

Linked Data

• dbSNP Id: rs1415232229
• gnomAD v2: 15-72668340-G-A
• gnomAD v4: 15-72375999-G-A
• MyVariant Identifiers: chr15:g.72668340G>A (hg19) ; chr15:g.72375999G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72375999G>A , CM000677.2:g.72375999G>A	GRCh38
NC_000015.9:g.72668340G>A , CM000677.1:g.72668340G>A	GRCh37
NC_000015.8:g.70455394G>A	NCBI36
NG_009017.1:g.5181C>T
NG_009017.2:g.5181C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567027.6:c.-27C>T	ENSP00000457521.2:n.-27C>T
ENST00000682653.1:n.5C>T
ENST00000683228.1:n.5C>T
ENST00000683463.1:c.-27C>T	ENSP00000507986.1:n.-27C>T
ENST00000683548.1:n.5C>T
ENST00000683587.1:n.5C>T
ENST00000683681.1:c.-27C>T	ENSP00000508110.1:n.-27C>T
ENST00000683853.1:c.-27C>T	ENSP00000506834.1:n.-27C>T
ENST00000683860.1:c.-27C>T	ENSP00000507179.1:n.-27C>T
ENST00000683884.1:c.-27C>T	ENSP00000507004.1:n.-27C>T
ENST00000684041.1:c.-27C>T	ENSP00000508382.1:n.-27C>T
ENST00000684125.1:c.-27C>T	ENSP00000507320.1:n.-27C>T
ENST00000684263.1:c.-27C>T	ENSP00000508369.1:n.-27C>T
ENST00000684415.1:c.-27C>T	ENSP00000507227.1:n.-27C>T
ENST00000684520.1:c.-27C>T	ENSP00000506826.1:n.-27C>T
ENST00000268097.10:c.-27C>T MANE Select	ENSP00000268097.6:n.-27C>T
ENST00000268097.9:c.-27C>T	ENSP00000268097.5:n.-27C>T
ENST00000566672.5:c.-27C>T	ENSP00000457037.1:n.-27C>T
ENST00000567411.5:c.-27C>T	ENSP00000455545.1:n.-27C>T
ENST00000569509.5:n.147-168C>T
NM_000520.4:c.-27C>T	NP_000511.2:n.-27C>T
NM_000520.5:c.-27C>T	NP_000511.2:n.-27C>T
NM_001318825.1:c.-27C>T	NP_001305754.1:n.-27C>T
NR_134869.1:n.475C>T
NM_000520.6:c.-27C>T MANE Select	NP_000511.2:n.-27C>T
NM_001318825.2:c.-27C>T	NP_001305754.1:n.-27C>T
NR_134869.2:n.16C>T
NR_134869.3:n.16C>T