Canonical Allele Identifier: CA364405071
Gene: MMUT HGNC NCBI

Linked Data

gnomAD v4: 6-49459178-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459178G>A , CM000668.2:g.49459178G>A GRCh38
NC_000006.11:g.49426891G>A , CM000668.1:g.49426891G>A GRCh37
NC_000006.10:g.49534850G>A NCBI36
NG_007100.1:g.8962C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.289C>T MANE Select ENSP00000274813.3:p.Pro97Ser
ENST00000274813.3:c.289C>T ENSP00000274813.3:p.Pro97Ser
NM_000255.3:c.289C>T NP_000246.2:p.Pro97Ser
XM_005249143.2:c.289C>T XP_005249200.1:p.Pro97Ser
XM_005249143.3:c.289C>T XP_005249200.1:p.Pro97Ser
NM_000255.4:c.289C>T MANE Select NP_000246.2:p.Pro97Ser