Canonical Allele Identifier: CA364405865
Gene: MMUT HGNC NCBI

Linked Data

gnomAD v4: 6-49459400-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.49459400A>C , CM000668.2:g.49459400A>C GRCh38
NC_000006.11:g.49427113A>C , CM000668.1:g.49427113A>C GRCh37
NC_000006.10:g.49535072A>C NCBI36
NG_007100.1:g.8740T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274813.4:c.67T>G MANE Select ENSP00000274813.3:p.Ser23Ala
ENST00000274813.3:c.67T>G ENSP00000274813.3:p.Ser23Ala
NM_000255.3:c.67T>G NP_000246.2:p.Ser23Ala
XM_005249143.2:c.67T>G XP_005249200.1:p.Ser23Ala
XM_005249143.3:c.67T>G XP_005249200.1:p.Ser23Ala
NM_000255.4:c.67T>G MANE Select NP_000246.2:p.Ser23Ala