Canonical Allele Identifier: CA364397310
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs1277439638
gnomAD v4: 6-49447782-G-A
MyVariant Identifiers: chr6:g.49415495G>A (hg19) chr6:g.49447782G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49447782G>A , CM000668.2:g.49447782G>A GRCh38
NC_000006.11:g.49415495G>A , CM000668.1:g.49415495G>A GRCh37
NC_000006.10:g.49523454G>A NCBI36
NG_007100.1:g.20358C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.1448C>T MANE Select ENSP00000274813.3:p.Ser483Phe
ENST00000274813.3:c.1448C>T ENSP00000274813.3:p.Ser483Phe
NM_000255.3:c.1448C>T NP_000246.2:p.Ser483Phe
XM_005249143.2:c.1448C>T XP_005249200.1:p.Ser483Phe
XM_005249143.3:c.1448C>T XP_005249200.1:p.Ser483Phe
NM_000255.4:c.1448C>T MANE Select NP_000246.2:p.Ser483Phe
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