Canonical Allele Identifier: CA364582834
Gene: MMUT HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.49399451T>A (hg19) chr6:g.49431738T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49431738T>A , CM000668.2:g.49431738T>A GRCh38
NC_000006.11:g.49399451T>A , CM000668.1:g.49399451T>A GRCh37
NC_000006.10:g.49507410T>A NCBI36
NG_007100.1:g.36402A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.2243A>T MANE Select ENSP00000274813.3:p.Gln748Leu
ENST00000274813.3:c.2243A>T ENSP00000274813.3:p.Gln748Leu
NM_000255.3:c.2243A>T NP_000246.2:p.Gln748Leu
XM_005249143.2:c.2243A>T XP_005249200.1:p.Gln748Leu
XM_005249143.3:c.2243A>T XP_005249200.1:p.Gln748Leu
NM_000255.4:c.2243A>T MANE Select NP_000246.2:p.Gln748Leu
Search 100 bp 5'
Search 100 bp 3'