Canonical Allele Identifier: CA3846944
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs761323724
ExAC: 6:49419306 G / C
gnomAD v2: 6-49419306-G-C
gnomAD v4: 6-49451593-G-C
MyVariant Identifiers: chr6:g.49419306G>C (hg19) chr6:g.49451593G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49451593G>C , CM000668.2:g.49451593G>C GRCh38
NC_000006.11:g.49419306G>C , CM000668.1:g.49419306G>C GRCh37
NC_000006.10:g.49527265G>C NCBI36
NG_007100.1:g.16547C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.1205C>G MANE Select ENSP00000274813.3:p.Ala402Gly
ENST00000274813.3:c.1205C>G ENSP00000274813.3:p.Ala402Gly
NM_000255.3:c.1205C>G NP_000246.2:p.Ala402Gly
XM_005249143.2:c.1205C>G XP_005249200.1:p.Ala402Gly
XM_005249143.3:c.1205C>G XP_005249200.1:p.Ala402Gly
NM_000255.4:c.1205C>G MANE Select NP_000246.2:p.Ala402Gly
Search 100 bp 5'
Search 100 bp 3'