Canonical Allele Identifier: CA364405329
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs1341884213
gnomAD v2: 6-49426964-C-A
gnomAD v4: 6-49459251-C-A
MyVariant Identifiers: chr6:g.49426964C>A (hg19) chr6:g.49459251C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459251C>A , CM000668.2:g.49459251C>A GRCh38
NC_000006.11:g.49426964C>A , CM000668.1:g.49426964C>A GRCh37
NC_000006.10:g.49534923C>A NCBI36
NG_007100.1:g.8889G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.216G>T MANE Select ENSP00000274813.3:p.Leu72Phe
ENST00000274813.3:c.216G>T ENSP00000274813.3:p.Leu72Phe
NM_000255.3:c.216G>T NP_000246.2:p.Leu72Phe
XM_005249143.2:c.216G>T XP_005249200.1:p.Leu72Phe
XM_005249143.3:c.216G>T XP_005249200.1:p.Leu72Phe
NM_000255.4:c.216G>T MANE Select NP_000246.2:p.Leu72Phe
Search 100 bp 5'
Search 100 bp 3'