Canonical Allele Identifier: CA1135834042

Gene: TNMD

Linked Data

• dbSNP Id: rs2082958241
• gnomAD v3: X-100598212-G-A
• gnomAD v4: X-100598212-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.100598212G>A , CM000685.2:g.100598212G>A	GRCh38
NC_000023.10:g.99853209G>A , CM000685.1:g.99853209G>A	GRCh37
NC_000023.9:g.99739865G>A	NCBI36
NG_013266.1:g.18420G>A
NG_013266.2:g.18420G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000373031.5:c.577+555G>A MANE Select	ENSP00000362122.4:n.577+555G>A
ENST00000373031.4:c.577+555G>A	ENSP00000362122.4:n.577+555G>A
NM_022144.2:c.577+555G>A	NP_071427.2:n.577+555G>A
XM_005262175.3:c.388+555G>A	XP_005262232.1:n.388+555G>A
XM_005262176.1:c.577+555G>A	XP_005262233.1:n.577+555G>A
XM_011531008.1:c.388+555G>A	XP_011529310.1:n.388+555G>A
XM_011531009.1:c.388+555G>A	XP_011529311.1:n.388+555G>A
XM_011531010.1:c.388+555G>A	XP_011529312.1:n.388+555G>A
NM_022144.3:c.577+555G>A MANE Select	NP_071427.2:n.577+555G>A