Canonical Allele Identifier: CA244689632

Gene: LRRC43

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.122183208C>T , CM000674.2:g.122183208C>T	GRCh38
NC_000012.11:g.122667755C>T , CM000674.1:g.122667755C>T	GRCh37
NC_000012.10:g.121233708C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001098519.2:c.64C>T MANE Select	NP_001091989.1:p.Pro22Ser
ENST00000339777.5:c.64C>T MANE Select	ENSP00000344233.4:p.Pro22Ser
NM_001098519.1:c.64C>T	NP_001091989.1:p.Pro22Ser
NM_152759.4:c.-405-1311C>T	NP_689972.3:n.-405-1311C>T
NM_152759.5:c.-405-1311C>T	NP_689972.3:n.-405-1311C>T
ENST00000339777.4:c.64C>T	ENSP00000344233.4:p.Pro22Ser
ENST00000537113.5:n.71+136C>T
ENST00000537729.5:c.-405-1311C>T	ENSP00000438751.1:n.-405-1311C>T
ENST00000541498.5:n.83C>T
XM_011538127.1:c.64C>T	XP_011536429.1:p.Pro22Ser
XM_017019124.1:c.64C>T	XP_016874613.1:p.Pro22Ser
XM_017019125.1:c.64C>T	XP_016874614.1:p.Pro22Ser