Canonical Allele Identifier: CA450513295
Gene: MMUT HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.49399447A>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49431734A>C , CM000668.2:g.49431734A>C GRCh38
NC_000006.11:g.49399447A>C , CM000668.1:g.49399447A>C GRCh37
NC_000006.10:g.49507406A>C NCBI36
NG_007100.1:g.36406T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.2247T>G MANE Select ENSP00000274813.3:p.Ser749=
ENST00000274813.3:c.2247T>G ENSP00000274813.3:p.Ser749=
NM_000255.3:c.2247T>G NP_000246.2:p.Ser749=
XM_005249143.2:c.2247T>G XP_005249200.1:p.Ser749=
XM_005249143.3:c.2247T>G XP_005249200.1:p.Ser749=
NM_000255.4:c.2247T>G MANE Select NP_000246.2:p.Ser749=
Search 100 bp 5'
Search 100 bp 3'