Canonical Allele Identifier: CA3847205
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs778231538
ExAC: 6:49427222 G / A
gnomAD v2: 6-49427222-G-A
gnomAD v4: 6-49459509-G-A
MyVariant Identifiers: chr6:g.49427222G>A (hg19) chr6:g.49459509G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459509G>A , CM000668.2:g.49459509G>A GRCh38
NC_000006.11:g.49427222G>A , CM000668.1:g.49427222G>A GRCh37
NC_000006.10:g.49535181G>A NCBI36
NG_007100.1:g.8631C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.-39-4C>T MANE Select ENSP00000274813.3:n.-39-4C>T
ENST00000274813.3:c.-39-4C>T ENSP00000274813.3:n.-39-4C>T
NM_000255.3:c.-39-4C>T NP_000246.2:n.-39-4C>T
XM_005249143.2:c.-39-4C>T XP_005249200.1:n.-39-4C>T
XM_005249143.3:c.-39-4C>T XP_005249200.1:n.-39-4C>T
NM_000255.4:c.-39-4C>T MANE Select NP_000246.2:n.-39-4C>T
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