Canonical Allele Identifier: CA2811822453

Gene: LAMA3

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23864903C>T , CM000680.2:g.23864903C>T	GRCh38
NC_000018.9:g.21444867C>T , CM000680.1:g.21444867C>T	GRCh37
NC_000018.8:g.19698865C>T	NCBI36
NG_007853.2:g.180306C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000313654.14:c.4683+20C>T MANE Select	ENSP00000324532.8:n.4683+20C>T
ENST00000649721.1:c.1575+20C>T	ENSP00000497885.1:n.1575+20C>T
ENST00000313654.13:c.4683+20C>T	ENSP00000324532.8:n.4683+20C>T
ENST00000399516.7:c.4683+20C>T	ENSP00000382432.2:n.4683+20C>T
NM_001127717.2:c.4683+20C>T	NP_001121189.2:n.4683+20C>T
NM_198129.2:c.4683+20C>T	NP_937762.2:n.4683+20C>T
XM_011525978.1:c.4710+20C>T	XP_011524280.1:n.4710+20C>T
XM_011525979.1:c.4701+20C>T	XP_011524281.1:n.4701+20C>T
XM_011525980.1:c.4692+20C>T	XP_011524282.1:n.4692+20C>T
XM_011525981.1:c.4578+20C>T	XP_011524283.1:n.4578+20C>T
XM_011525982.1:c.4710+20C>T	XP_011524284.1:n.4710+20C>T
XM_011525978.2:c.4710+20C>T	XP_011524280.1:n.4710+20C>T
XM_011525979.2:c.4701+20C>T	XP_011524281.1:n.4701+20C>T
XM_011525980.2:c.4692+20C>T	XP_011524282.1:n.4692+20C>T
XM_011525981.2:c.4578+20C>T	XP_011524283.1:n.4578+20C>T
XM_011525982.2:c.4710+20C>T	XP_011524284.1:n.4710+20C>T
XM_017025743.1:c.2562+20C>T	XP_016881232.1:n.2562+20C>T
XM_017025744.1:c.252+20C>T	XP_016881233.1:n.252+20C>T
XR_001753199.1:n.4951+20C>T
NM_001127717.3:c.4683+20C>T	NP_001121189.2:n.4683+20C>T
NM_198129.3:c.4683+20C>T	NP_937762.2:n.4683+20C>T
NM_001127717.4:c.4683+20C>T	NP_001121189.2:n.4683+20C>T
NM_198129.4:c.4683+20C>T MANE Select	NP_937762.2:n.4683+20C>T