Canonical Allele Identifier: CA364404568
Gene: MMUT HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.49425643T>G (hg19) chr6:g.49457930T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49457930T>G , CM000668.2:g.49457930T>G GRCh38
NC_000006.11:g.49425643T>G , CM000668.1:g.49425643T>G GRCh37
NC_000006.10:g.49533602T>G NCBI36
NG_007100.1:g.10210A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.514A>C MANE Select ENSP00000274813.3:p.Ile172Leu
ENST00000274813.3:c.514A>C ENSP00000274813.3:p.Ile172Leu
NM_000255.3:c.514A>C NP_000246.2:p.Ile172Leu
XM_005249143.2:c.514A>C XP_005249200.1:p.Ile172Leu
XM_005249143.3:c.514A>C XP_005249200.1:p.Ile172Leu
NM_000255.4:c.514A>C MANE Select NP_000246.2:p.Ile172Leu
Search 100 bp 5'
Search 100 bp 3'