Canonical Allele Identifier: CA449808631

Gene: NEU1

Linked Data

• gnomAD v4: 6-31861443-T-G
• MyVariant Identifiers: chr6:g.31829220T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.31861443T>G , CM000668.2:g.31861443T>G	GRCh38
NC_000006.11:g.31829220T>G , CM000668.1:g.31829220T>G	GRCh37
NC_000006.10:g.31937199T>G	NCBI36
NG_008201.1:g.6490A>C
NG_023058.1:g.22604A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375631.5:c.360A>C MANE Select	ENSP00000364782.4:p.Thr120=
ENST00000677054.1:n.1037A>C
ENST00000677512.1:n.468A>C
ENST00000678869.1:n.468A>C
ENST00000375631.4:c.360A>C	ENSP00000364782.4:p.Thr120=
ENST00000480384.1:n.389A>C
ENST00000491768.5:c.360A>C	ENSP00000433127.1:p.Thr120=
ENST00000495807.1:n.928A>C
NM_000434.3:c.360A>C	NP_000425.1:p.Thr120=
NM_000434.4:c.360A>C MANE Select	NP_000425.1:p.Thr120=