Canonical Allele Identifier: CA9942861

Gene: LAMA5

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.62330822A>G , CM000682.2:g.62330822A>G	GRCh38
NC_000020.10:g.60905878A>G , CM000682.1:g.60905878A>G	GRCh37
NC_000020.9:g.60339273A>G	NCBI36
NG_050626.1:g.41499T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005560.6:c.3773T>C MANE Select	NP_005551.3:p.Met1258Thr
ENST00000252999.7:c.3773T>C MANE Select	ENSP00000252999.3:p.Met1258Thr
NM_005560.4:c.3773T>C	NP_005551.3:p.Met1258Thr
NM_005560.5:c.3773T>C	NP_005551.3:p.Met1258Thr
XM_006723796.2:c.3773T>C	XP_006723859.1:p.Met1258Thr
XM_006723796.3:c.3773T>C	XP_006723859.1:p.Met1258Thr
XM_006723798.2:c.3773T>C	XP_006723861.1:p.Met1258Thr
XM_006723798.3:c.3773T>C	XP_006723861.1:p.Met1258Thr
XM_011528818.1:c.3635T>C	XP_011527120.1:p.Met1212Thr
XM_011528818.2:c.3635T>C	XP_011527120.1:p.Met1212Thr
XM_011528819.1:c.3500T>C	XP_011527121.1:p.Met1167Thr
XM_011528819.2:c.3500T>C	XP_011527121.1:p.Met1167Thr
XR_936532.1:n.3845T>C
XR_936532.2:n.3844T>C