Canonical Allele Identifier: CA2711790831
Gene: MMUT HGNC NCBI

Linked Data

dbSNP Id: rs2127416776

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49447651A>G , CM000668.2:g.49447651A>G GRCh38
NC_000006.11:g.49415364A>G , CM000668.1:g.49415364A>G GRCh37
NC_000006.10:g.49523323A>G NCBI36
NG_007100.1:g.20489T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000274813.4:c.1560+19T>C MANE Select ENSP00000274813.3:n.1560+19T>C
ENST00000274813.3:c.1560+19T>C ENSP00000274813.3:n.1560+19T>C
NM_000255.3:c.1560+19T>C NP_000246.2:n.1560+19T>C
XM_005249143.2:c.1560+19T>C XP_005249200.1:n.1560+19T>C
XM_005249143.3:c.1560+19T>C XP_005249200.1:n.1560+19T>C
NM_000255.4:c.1560+19T>C MANE Select NP_000246.2:n.1560+19T>C