Canonical Allele Identifier: CA15102453

Gene: TBX15

Linked Data

• dbSNP Id: rs984225
• gnomAD v2: 1-119504284-G-A
• gnomAD v3: 1-118961661-G-A
• gnomAD v4: 1-118961661-G-A
• MyVariant Identifiers: chr1:g.119504284G>A (hg19) ; chr1:g.118961661G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.118961661G>A , CM000663.2:g.118961661G>A	GRCh38
NC_000001.10:g.119504284G>A , CM000663.1:g.119504284G>A	GRCh37
NC_000001.9:g.119305807G>A	NCBI36
NG_013361.1:g.32896C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369429.5:c.205+25930C>T MANE Select	ENSP00000358437.3:n.205+25930C>T
ENST00000207157.7:c.-114+27694C>T	ENSP00000207157.3:n.-114+27694C>T
ENST00000369429.3:c.205+25930C>T	ENSP00000358437.3:n.205+25930C>T
NM_152380.2:c.-114+27694C>T	NP_689593.2:n.-114+27694C>T
XM_005271161.2:c.205+25930C>T	XP_005271218.1:n.205+25930C>T
XM_005271162.1:c.205+25930C>T	XP_005271219.1:n.205+25930C>T
NM_001330677.1:c.205+25930C>T	NP_001317606.1:n.205+25930C>T
XM_005271161.4:c.205+25930C>T	XP_005271218.1:n.205+25930C>T
NM_001330677.2:c.205+25930C>T MANE Select	NP_001317606.1:n.205+25930C>T
NM_152380.3:c.-114+27694C>T	NP_689593.2:n.-114+27694C>T