Canonical Allele Identifier: CA364582827
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs960855643
gnomAD v4: 6-49431735-G-A
MyVariant Identifiers: chr6:g.49399448G>A (hg19) chr6:g.49431735G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49431735G>A , CM000668.2:g.49431735G>A GRCh38
NC_000006.11:g.49399448G>A , CM000668.1:g.49399448G>A GRCh37
NC_000006.10:g.49507407G>A NCBI36
NG_007100.1:g.36405C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.2246C>T MANE Select ENSP00000274813.3:p.Ser749Phe
ENST00000274813.3:c.2246C>T ENSP00000274813.3:p.Ser749Phe
NM_000255.3:c.2246C>T NP_000246.2:p.Ser749Phe
XM_005249143.2:c.2246C>T XP_005249200.1:p.Ser749Phe
XM_005249143.3:c.2246C>T XP_005249200.1:p.Ser749Phe
NM_000255.4:c.2246C>T MANE Select NP_000246.2:p.Ser749Phe
Search 100 bp 5'
Search 100 bp 3'