Canonical Allele Identifier: CA407783180

Gene: TFPT

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.54109321G>T , CM000681.2:g.54109321G>T	GRCh38

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391759.6:c.353+730C>A MANE Select	ENSP00000375639.1:n.353+730C>A
ENST00000391757.1:c.353+730C>A	ENSP00000375637.1:n.353+730C>A
ENST00000391758.5:c.326+730C>A	ENSP00000375638.1:n.326+730C>A
ENST00000391759.5:c.353+730C>A	ENSP00000375639.1:n.353+730C>A
ENST00000420715.6:c.283-926C>A	ENSP00000395180.1:n.283-926C>A
NM_013342.3:c.353+730C>A	NP_037474.1:n.353+730C>A
XM_005278261.1:c.-8+730C>A	XP_005278318.1:n.-8+730C>A
XM_011526875.1:c.326+730C>A	XP_011525177.1:n.326+730C>A
XR_935813.1:n.376+730C>A
XR_936069.1:n.635G>T
NM_001321792.1:c.326+730C>A	NP_001308721.1:n.326+730C>A
XR_935813.3:n.745+730C>A
NM_001321792.2:c.326+730C>A	NP_001308721.1:n.326+730C>A
NM_013342.4:c.353+730C>A MANE Select	NP_037474.1:n.353+730C>A