Canonical Allele Identifier: CA628685882

Gene: LAMA3

Linked Data

• dbSNP Id: rs1252095922
• gnomAD v2: 18-21508215-G-C
• gnomAD v4: 18-23928251-G-C
• MyVariant Identifiers: chr18:g.21508215G>C (hg19) ; chr18:g.23928251G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23928251G>C , CM000680.2:g.23928251G>C	GRCh38
NC_000018.9:g.21508215G>C , CM000680.1:g.21508215G>C	GRCh37
NC_000018.8:g.19762213G>C	NCBI36
NG_007853.2:g.243654G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.3468+11G>C MANE Plus Clinical	ENSP00000269217.5:n.3468+11G>C
ENST00000313654.14:c.8295+11G>C MANE Select	ENSP00000324532.8:n.8295+11G>C
ENST00000649721.1:c.4890+11G>C	ENSP00000497885.1:n.4890+11G>C
ENST00000269217.10:c.3468+11G>C	ENSP00000269217.5:n.3468+11G>C
ENST00000313654.13:c.8295+11G>C	ENSP00000324532.8:n.8295+11G>C
ENST00000399516.7:c.8127+11G>C	ENSP00000382432.2:n.8127+11G>C
ENST00000586751.5:c.3073+11G>C
ENST00000587184.5:c.3300+11G>C	ENSP00000466557.1:n.3300+11G>C
ENST00000588770.5:n.2873+11G>C
NM_000227.4:c.3468+11G>C	NP_000218.3:n.3468+11G>C
NM_001127717.2:c.8127+11G>C	NP_001121189.2:n.8127+11G>C
NM_001127718.2:c.3300+11G>C	NP_001121190.2:n.3300+11G>C
NM_198129.2:c.8295+11G>C	NP_937762.2:n.8295+11G>C
XM_011525978.1:c.8322+11G>C	XP_011524280.1:n.8322+11G>C
XM_011525979.1:c.8313+11G>C	XP_011524281.1:n.8313+11G>C
XM_011525980.1:c.8304+11G>C	XP_011524282.1:n.8304+11G>C
XM_011525981.1:c.8190+11G>C	XP_011524283.1:n.8190+11G>C
XM_011525982.1:c.8025+11G>C	XP_011524284.1:n.8025+11G>C
XM_011525978.2:c.8322+11G>C	XP_011524280.1:n.8322+11G>C
XM_011525979.2:c.8313+11G>C	XP_011524281.1:n.8313+11G>C
XM_011525980.2:c.8304+11G>C	XP_011524282.1:n.8304+11G>C
XM_011525981.2:c.8190+11G>C	XP_011524283.1:n.8190+11G>C
XM_011525982.2:c.8025+11G>C	XP_011524284.1:n.8025+11G>C
XM_017025743.1:c.6174+11G>C	XP_016881232.1:n.6174+11G>C
XM_017025744.1:c.3864+11G>C	XP_016881233.1:n.3864+11G>C
XR_001753199.1:n.8563+11G>C
NM_000227.5:c.3468+11G>C	NP_000218.3:n.3468+11G>C
NM_001127717.3:c.8127+11G>C	NP_001121189.2:n.8127+11G>C
NM_001127718.3:c.3300+11G>C	NP_001121190.2:n.3300+11G>C
NM_198129.3:c.8295+11G>C	NP_937762.2:n.8295+11G>C
NM_000227.6:c.3468+11G>C MANE Plus Clinical	NP_000218.3:n.3468+11G>C
NM_001127717.4:c.8127+11G>C	NP_001121189.2:n.8127+11G>C
NM_001127718.4:c.3300+11G>C	NP_001121190.2:n.3300+11G>C
NM_198129.4:c.8295+11G>C MANE Select	NP_937762.2:n.8295+11G>C