Canonical Allele Identifier: CA955689753

Gene: LRCH1

Linked Data

• dbSNP Id: rs2050528774
• gnomAD v3: 13-46593856-T-A
• gnomAD v4: 13-46593856-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.46593856T>A , CM000675.2:g.46593856T>A	GRCh38
NC_000013.10:g.47167991T>A , CM000675.1:g.47167991T>A	GRCh37
NC_000013.9:g.46065992T>A	NCBI36
NG_021335.1:g.45696T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389797.8:c.307+40153T>A MANE Select	ENSP00000374447.3:n.307+40153T>A
ENST00000311191.10:c.307+40153T>A	ENSP00000308493.5:n.307+40153T>A
ENST00000389797.7:c.307+40153T>A	ENSP00000374447.3:n.307+40153T>A
ENST00000389798.7:c.307+40153T>A	ENSP00000374448.3:n.307+40153T>A
ENST00000443945.6:n.534+40153T>A
NM_001164211.1:c.307+40153T>A	NP_001157683.1:n.307+40153T>A
NM_001164213.1:c.307+40153T>A	NP_001157685.1:n.307+40153T>A
NM_015116.2:c.307+40153T>A	NP_055931.1:n.307+40153T>A
XM_011535013.1:c.307+40153T>A	XP_011533315.1:n.307+40153T>A
XM_017020483.2:c.307+40153T>A	XP_016875972.1:n.307+40153T>A
XM_017020484.1:c.-329+40153T>A	XP_016875973.1:n.-329+40153T>A
XR_001749525.2:n.534+40153T>A
NM_001164211.2:c.307+40153T>A MANE Select	NP_001157683.2:n.307+40153T>A
NM_001164213.2:c.307+40153T>A	NP_001157685.2:n.307+40153T>A
NM_015116.3:c.307+40153T>A	NP_055931.2:n.307+40153T>A