Canonical Allele Identifier: CA2374223614

Gene: LAMA5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62363592C>G , CM000682.2:g.62363592C>G	GRCh38
NC_000020.10:g.60938648C>G , CM000682.1:g.60938648C>G	GRCh37
NC_000020.9:g.60372043C>G	NCBI36
NG_050626.1:g.8729G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252999.7:c.298-1040G>C MANE Select	ENSP00000252999.3:n.298-1040G>C
ENST00000370677.4:n.323-1040G>C
NM_005560.4:c.298-1040G>C	NP_005551.3:n.298-1040G>C
XM_006723796.2:c.298-1040G>C	XP_006723859.1:n.298-1040G>C
XM_006723798.2:c.298-1040G>C	XP_006723861.1:n.298-1040G>C
XM_011528818.1:c.298-1040G>C	XP_011527120.1:n.298-1040G>C
XM_011528819.1:c.298-1040G>C	XP_011527121.1:n.298-1040G>C
XR_936532.1:n.370-1040G>C
XM_006723796.3:c.298-1040G>C	XP_006723859.1:n.298-1040G>C
XM_006723798.3:c.298-1040G>C	XP_006723861.1:n.298-1040G>C
XM_011528818.2:c.298-1040G>C	XP_011527120.1:n.298-1040G>C
XM_011528819.2:c.298-1040G>C	XP_011527121.1:n.298-1040G>C
XR_936532.2:n.369-1040G>C
NM_005560.5:c.298-1040G>C	NP_005551.3:n.298-1040G>C
NM_005560.6:c.298-1040G>C MANE Select	NP_005551.3:n.298-1040G>C