Canonical Allele Identifier: CA364404852
Gene: MMUT HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.49426795C>T (hg19) chr6:g.49459082C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459082C>T , CM000668.2:g.49459082C>T GRCh38
NC_000006.11:g.49426795C>T , CM000668.1:g.49426795C>T GRCh37
NC_000006.10:g.49534754C>T NCBI36
NG_007100.1:g.9058G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.385G>A MANE Select ENSP00000274813.3:p.Ala129Thr
ENST00000274813.3:c.385G>A ENSP00000274813.3:p.Ala129Thr
NM_000255.3:c.385G>A NP_000246.2:p.Ala129Thr
XM_005249143.2:c.385G>A XP_005249200.1:p.Ala129Thr
XM_005249143.3:c.385G>A XP_005249200.1:p.Ala129Thr
NM_000255.4:c.385G>A MANE Select NP_000246.2:p.Ala129Thr
Search 100 bp 5'
Search 100 bp 3'