Canonical Allele Identifier: CA364404957

Gene: MMUT

Linked Data

• MyVariant Identifiers: chr6:g.49426839C>A (hg19) ; chr6:g.49459126C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.49459126C>A , CM000668.2:g.49459126C>A	GRCh38
NC_000006.11:g.49426839C>A , CM000668.1:g.49426839C>A	GRCh37
NC_000006.10:g.49534798C>A	NCBI36
NG_007100.1:g.9014G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274813.4:c.341G>T MANE Select	ENSP00000274813.3:p.Ser114Ile
ENST00000274813.3:c.341G>T	ENSP00000274813.3:p.Ser114Ile
NM_000255.3:c.341G>T	NP_000246.2:p.Ser114Ile
XM_005249143.2:c.341G>T	XP_005249200.1:p.Ser114Ile
XM_005249143.3:c.341G>T	XP_005249200.1:p.Ser114Ile
NM_000255.4:c.341G>T MANE Select	NP_000246.2:p.Ser114Ile