Canonical Allele Identifier: CA9942124

Gene: LAMA5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62324449C>T , CM000682.2:g.62324449C>T	GRCh38
NC_000020.10:g.60899505C>T , CM000682.1:g.60899505C>T	GRCh37
NC_000020.9:g.60332900C>T	NCBI36
NG_050626.1:g.47872G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005560.6:c.5635G>A MANE Select	NP_005551.3:p.Val1879Ile
ENST00000252999.7:c.5635G>A MANE Select	ENSP00000252999.3:p.Val1879Ile
NM_005560.4:c.5635G>A	NP_005551.3:p.Val1879Ile
NM_005560.5:c.5635G>A	NP_005551.3:p.Val1879Ile
ENST00000464134.1:n.423G>A
XM_006723796.2:c.5635G>A	XP_006723859.1:p.Val1879Ile
XM_006723796.3:c.5635G>A	XP_006723859.1:p.Val1879Ile
XM_006723798.2:c.5635G>A	XP_006723861.1:p.Val1879Ile
XM_006723798.3:c.5635G>A	XP_006723861.1:p.Val1879Ile
XM_011528818.1:c.5497G>A	XP_011527120.1:p.Val1833Ile
XM_011528818.2:c.5497G>A	XP_011527120.1:p.Val1833Ile
XM_011528819.1:c.5362G>A	XP_011527121.1:p.Val1788Ile
XM_011528819.2:c.5362G>A	XP_011527121.1:p.Val1788Ile
XR_936532.1:n.5707G>A
XR_936532.2:n.5706G>A