Canonical Allele Identifier: CA333839943

Gene: TNMD

Linked Data

• dbSNP Id: rs368133489
• gnomAD v3: X-100598228-G-A
• gnomAD v4: X-100598228-G-A
• MyVariant Identifiers: chrX:g.99853225G>A (hg19) ; chrX:g.100598228G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100598228G>A , CM000685.2:g.100598228G>A	GRCh38
NC_000023.10:g.99853225G>A , CM000685.1:g.99853225G>A	GRCh37
NC_000023.9:g.99739881G>A	NCBI36
NG_013266.1:g.18436G>A
NG_013266.2:g.18436G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373031.5:c.577+571G>A MANE Select	ENSP00000362122.4:n.577+571G>A
ENST00000373031.4:c.577+571G>A	ENSP00000362122.4:n.577+571G>A
NM_022144.2:c.577+571G>A	NP_071427.2:n.577+571G>A
XM_005262175.3:c.388+571G>A	XP_005262232.1:n.388+571G>A
XM_005262176.1:c.577+571G>A	XP_005262233.1:n.577+571G>A
XM_011531008.1:c.388+571G>A	XP_011529310.1:n.388+571G>A
XM_011531009.1:c.388+571G>A	XP_011529311.1:n.388+571G>A
XM_011531010.1:c.388+571G>A	XP_011529312.1:n.388+571G>A
NM_022144.3:c.577+571G>A MANE Select	NP_071427.2:n.577+571G>A