Canonical Allele Identifier: CA8914539

Gene: LAMA3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23773638C>T , CM000680.2:g.23773638C>T	GRCh38
NC_000018.9:g.21353602C>T , CM000680.1:g.21353602C>T	GRCh37
NC_000018.8:g.19607600C>T	NCBI36
NG_007853.2:g.89041C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_198129.4:c.1273+51C>T MANE Select	NP_937762.2:n.1273+51C>T
ENST00000313654.14:c.1273+51C>T MANE Select	ENSP00000324532.8:n.1273+51C>T
NM_001127717.2:c.1273+51C>T	NP_001121189.2:n.1273+51C>T
NM_001127717.3:c.1273+51C>T	NP_001121189.2:n.1273+51C>T
NM_001127717.4:c.1273+51C>T	NP_001121189.2:n.1273+51C>T
NM_001302996.1:c.1324C>T	NP_001289925.1:p.Arg442Ter
NM_001302996.2:c.1324C>T	NP_001289925.1:p.Arg442Ter
NM_198129.2:c.1273+51C>T	NP_937762.2:n.1273+51C>T
NM_198129.3:c.1273+51C>T	NP_937762.2:n.1273+51C>T
NR_130106.1:n.1514+51C>T
NR_130106.2:n.1504+51C>T
ENST00000313654.13:c.1273+51C>T	ENSP00000324532.8:n.1273+51C>T
ENST00000399516.7:c.1273+51C>T	ENSP00000382432.2:n.1273+51C>T
ENST00000585600.5:c.1273+51C>T	ENSP00000468316.1:n.1273+51C>T
XM_011525978.1:c.1273+51C>T	XP_011524280.1:n.1273+51C>T
XM_011525978.2:c.1273+51C>T	XP_011524280.1:n.1273+51C>T
XM_011525979.1:c.1273+51C>T	XP_011524281.1:n.1273+51C>T
XM_011525979.2:c.1273+51C>T	XP_011524281.1:n.1273+51C>T
XM_011525980.1:c.1273+51C>T	XP_011524282.1:n.1273+51C>T
XM_011525980.2:c.1273+51C>T	XP_011524282.1:n.1273+51C>T
XM_011525981.1:c.1273+51C>T	XP_011524283.1:n.1273+51C>T
XM_011525981.2:c.1273+51C>T	XP_011524283.1:n.1273+51C>T
XM_011525982.1:c.1273+51C>T	XP_011524284.1:n.1273+51C>T
XM_011525982.2:c.1273+51C>T	XP_011524284.1:n.1273+51C>T
XR_001753199.1:n.1514+51C>T