Canonical Allele Identifier: CA333839947

Gene: TNMD

Linked Data

• dbSNP Id: rs756260693
• gnomAD v3: X-100598270-C-T
• gnomAD v4: X-100598270-C-T
• MyVariant Identifiers: chrX:g.99853267C>T (hg19) ; chrX:g.100598270C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100598270C>T , CM000685.2:g.100598270C>T	GRCh38
NC_000023.10:g.99853267C>T , CM000685.1:g.99853267C>T	GRCh37
NC_000023.9:g.99739923C>T	NCBI36
NG_013266.1:g.18478C>T
NG_013266.2:g.18478C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373031.5:c.577+613C>T MANE Select	ENSP00000362122.4:n.577+613C>T
ENST00000373031.4:c.577+613C>T	ENSP00000362122.4:n.577+613C>T
NM_022144.2:c.577+613C>T	NP_071427.2:n.577+613C>T
XM_005262175.3:c.388+613C>T	XP_005262232.1:n.388+613C>T
XM_005262176.1:c.577+613C>T	XP_005262233.1:n.577+613C>T
XM_011531008.1:c.388+613C>T	XP_011529310.1:n.388+613C>T
XM_011531009.1:c.388+613C>T	XP_011529311.1:n.388+613C>T
XM_011531010.1:c.388+613C>T	XP_011529312.1:n.388+613C>T
NM_022144.3:c.577+613C>T MANE Select	NP_071427.2:n.577+613C>T