Canonical Allele Identifier: CA364404574
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs1223169999
gnomAD v2: 6-49425646-T-C
gnomAD v4: 6-49457933-T-C
MyVariant Identifiers: chr6:g.49425646T>C (hg19) chr6:g.49457933T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457933T>C , CM000668.2:g.49457933T>C GRCh38
NC_000006.11:g.49425646T>C , CM000668.1:g.49425646T>C GRCh37
NC_000006.10:g.49533605T>C NCBI36
NG_007100.1:g.10207A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.511A>G MANE Select ENSP00000274813.3:p.Lys171Glu
ENST00000274813.3:c.511A>G ENSP00000274813.3:p.Lys171Glu
NM_000255.3:c.511A>G NP_000246.2:p.Lys171Glu
XM_005249143.2:c.511A>G XP_005249200.1:p.Lys171Glu
XM_005249143.3:c.511A>G XP_005249200.1:p.Lys171Glu
NM_000255.4:c.511A>G MANE Select NP_000246.2:p.Lys171Glu
Search 100 bp 5'
Search 100 bp 3'