Canonical Allele Identifier: CA3846844
Gene: MMUT HGNC NCBI

Linked Data

ClinVar Variation Id: 2818946
ClinVar RCV Id: RCV003713946
dbSNP Id: rs781470762
ExAC: 6:49415368 G / A
gnomAD v2: 6-49415368-G-A
gnomAD v3: 6-49447655-G-A
gnomAD v4: 6-49447655-G-A
MyVariant Identifiers: chr6:g.49415368G>A (hg19) chr6:g.49447655G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49447655G>A , CM000668.2:g.49447655G>A GRCh38
NC_000006.11:g.49415368G>A , CM000668.1:g.49415368G>A GRCh37
NC_000006.10:g.49523327G>A NCBI36
NG_007100.1:g.20485C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.1560+15C>T MANE Select ENSP00000274813.3:n.1560+15C>T
ENST00000274813.3:c.1560+15C>T ENSP00000274813.3:n.1560+15C>T
NM_000255.3:c.1560+15C>T NP_000246.2:n.1560+15C>T
XM_005249143.2:c.1560+15C>T XP_005249200.1:n.1560+15C>T
XM_005249143.3:c.1560+15C>T XP_005249200.1:n.1560+15C>T
NM_000255.4:c.1560+15C>T MANE Select NP_000246.2:n.1560+15C>T
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