Canonical Allele Identifier: CA450399633
Gene: MMUT HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.49426823G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459110G>A , CM000668.2:g.49459110G>A GRCh38
NC_000006.11:g.49426823G>A , CM000668.1:g.49426823G>A GRCh37
NC_000006.10:g.49534782G>A NCBI36
NG_007100.1:g.9030C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.357C>T MANE Select ENSP00000274813.3:p.Ser119=
ENST00000274813.3:c.357C>T ENSP00000274813.3:p.Ser119=
NM_000255.3:c.357C>T NP_000246.2:p.Ser119=
XM_005249143.2:c.357C>T XP_005249200.1:p.Ser119=
XM_005249143.3:c.357C>T XP_005249200.1:p.Ser119=
NM_000255.4:c.357C>T MANE Select NP_000246.2:p.Ser119=