Canonical Allele Identifier: CA7645150

Gene: HEXA

Linked Data

• dbSNP Id: rs370312523
• ExAC: 15:72668351 G / T
• gnomAD v2: 15-72668351-G-T
• gnomAD v3: 15-72376010-G-T
• gnomAD v4: 15-72376010-G-T
• MyVariant Identifiers: chr15:g.72668351G>T (hg19) ; chr15:g.72376010G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.72376010G>T , CM000677.2:g.72376010G>T	GRCh38
NC_000015.9:g.72668351G>T , CM000677.1:g.72668351G>T	GRCh37
NC_000015.8:g.70455405G>T	NCBI36
NG_009017.1:g.5170C>A
NG_009017.2:g.5170C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268097.10:c.-38C>A MANE Select	ENSP00000268097.6:n.-38C>A
ENST00000268097.9:c.-38C>A	ENSP00000268097.5:n.-38C>A
ENST00000569509.5:n.147-179C>A
NM_000520.4:c.-38C>A	NP_000511.2:n.-38C>A
NM_000520.5:c.-38C>A	NP_000511.2:n.-38C>A
NM_001318825.1:c.-38C>A	NP_001305754.1:n.-38C>A
NR_134869.1:n.464C>A
NM_000520.6:c.-38C>A MANE Select	NP_000511.2:n.-38C>A
NM_001318825.2:c.-38C>A	NP_001305754.1:n.-38C>A
NR_134869.2:n.5C>A
NR_134869.3:n.5C>A