Canonical Allele Identifier: CA2578717777
Gene: MMUT HGNC NCBI

Linked Data

gnomAD v4: 6-49444610-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49444610T>A , CM000668.2:g.49444610T>A GRCh38
NC_000006.11:g.49412323T>A , CM000668.1:g.49412323T>A GRCh37
NC_000006.10:g.49520282T>A NCBI36
NG_007100.1:g.23530A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.1676+29A>T MANE Select ENSP00000274813.3:n.1676+29A>T
ENST00000274813.3:c.1676+29A>T ENSP00000274813.3:n.1676+29A>T
NM_000255.3:c.1676+29A>T NP_000246.2:n.1676+29A>T
XM_005249143.2:c.1676+29A>T XP_005249200.1:n.1676+29A>T
XM_005249143.3:c.1676+29A>T XP_005249200.1:n.1676+29A>T
NM_000255.4:c.1676+29A>T MANE Select NP_000246.2:n.1676+29A>T
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