Canonical Allele Identifier: CA643517251

Gene: TNMD

Linked Data

• dbSNP Id: rs1480512872
• gnomAD v2: X-99853214-T-G
• gnomAD v3: X-100598217-T-G
• gnomAD v4: X-100598217-T-G
• MyVariant Identifiers: chrX:g.99853214T>G (hg19) ; chrX:g.100598217T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100598217T>G , CM000685.2:g.100598217T>G	GRCh38
NC_000023.10:g.99853214T>G , CM000685.1:g.99853214T>G	GRCh37
NC_000023.9:g.99739870T>G	NCBI36
NG_013266.1:g.18425T>G
NG_013266.2:g.18425T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000373031.5:c.577+560T>G MANE Select	ENSP00000362122.4:n.577+560T>G
ENST00000373031.4:c.577+560T>G	ENSP00000362122.4:n.577+560T>G
NM_022144.2:c.577+560T>G	NP_071427.2:n.577+560T>G
XM_005262175.3:c.388+560T>G	XP_005262232.1:n.388+560T>G
XM_005262176.1:c.577+560T>G	XP_005262233.1:n.577+560T>G
XM_011531008.1:c.388+560T>G	XP_011529310.1:n.388+560T>G
XM_011531009.1:c.388+560T>G	XP_011529311.1:n.388+560T>G
XM_011531010.1:c.388+560T>G	XP_011529312.1:n.388+560T>G
NM_022144.3:c.577+560T>G MANE Select	NP_071427.2:n.577+560T>G