Canonical Allele Identifier: CA450608977
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs1767780929
gnomAD v4: 6-49459407-T-C
MyVariant Identifiers: chr6:g.49427120T>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459407T>C , CM000668.2:g.49459407T>C GRCh38
NC_000006.11:g.49427120T>C , CM000668.1:g.49427120T>C GRCh37
NC_000006.10:g.49535079T>C NCBI36
NG_007100.1:g.8733A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.60A>G MANE Select ENSP00000274813.3:p.Lys20=
ENST00000274813.3:c.60A>G ENSP00000274813.3:p.Lys20=
NM_000255.3:c.60A>G NP_000246.2:p.Lys20=
XM_005249143.2:c.60A>G XP_005249200.1:p.Lys20=
XM_005249143.3:c.60A>G XP_005249200.1:p.Lys20=
NM_000255.4:c.60A>G MANE Select NP_000246.2:p.Lys20=
Search 100 bp 5'
Search 100 bp 3'