Canonical Allele Identifier: CA363494704

Gene: NEU1

Linked Data

• gnomAD v4: 6-31861360-G-T
• MyVariant Identifiers: chr6:g.31829137G>T (hg19) ; chr6:g.31861360G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861360G>T , CM000668.2:g.31861360G>T	GRCh38
NC_000006.11:g.31829137G>T , CM000668.1:g.31829137G>T	GRCh37
NC_000006.10:g.31937116G>T	NCBI36
NG_008201.1:g.6573C>A
NG_023058.1:g.22687C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.443C>A MANE Select	ENSP00000364782.4:p.Thr148Lys
ENST00000677054.1:n.1120C>A
ENST00000677512.1:n.551C>A
ENST00000678869.1:n.551C>A
ENST00000375631.4:c.443C>A	ENSP00000364782.4:p.Thr148Lys
ENST00000480384.1:n.472C>A
ENST00000491768.5:c.443C>A	ENSP00000433127.1:p.Thr148Lys
ENST00000495807.1:n.1011C>A
NM_000434.3:c.443C>A	NP_000425.1:p.Thr148Lys
NM_000434.4:c.443C>A MANE Select	NP_000425.1:p.Thr148Lys