Canonical Allele Identifier: CA8917047

Gene: LAMA3

Linked Data

• dbSNP Id: rs751139164
• ExAC: 18:21519295 G / C
• MyVariant Identifiers: chr18:g.21519295G>C (hg19) ; chr18:g.23939331G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23939331G>C , CM000680.2:g.23939331G>C	GRCh38
NC_000018.9:g.21519295G>C , CM000680.1:g.21519295G>C	GRCh37
NC_000018.8:g.19773293G>C	NCBI36
NG_007853.2:g.254734G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.4144G>C MANE Plus Clinical	ENSP00000269217.5:p.Asp1382His
ENST00000313654.14:c.8971G>C MANE Select	ENSP00000324532.8:p.Asp2991His
ENST00000649721.1:c.5566G>C	ENSP00000497885.1:p.Asp1856His
ENST00000269217.10:c.4144G>C	ENSP00000269217.5:p.Asp1382His
ENST00000313654.13:c.8971G>C	ENSP00000324532.8:p.Asp2991His
ENST00000399516.7:c.8803G>C	ENSP00000382432.2:p.Asp2935His
ENST00000587184.5:c.3976G>C	ENSP00000466557.1:p.Asp1326His
ENST00000588770.5:n.3549G>C
NM_000227.4:c.4144G>C	NP_000218.3:p.Asp1382His
NM_001127717.2:c.8803G>C	NP_001121189.2:p.Asp2935His
NM_001127718.2:c.3976G>C	NP_001121190.2:p.Asp1326His
NM_198129.2:c.8971G>C	NP_937762.2:p.Asp2991His
XM_011525978.1:c.8998G>C	XP_011524280.1:p.Asp3000His
XM_011525979.1:c.8989G>C	XP_011524281.1:p.Asp2997His
XM_011525980.1:c.8980G>C	XP_011524282.1:p.Asp2994His
XM_011525981.1:c.8866G>C	XP_011524283.1:p.Asp2956His
XM_011525982.1:c.8701G>C	XP_011524284.1:p.Asp2901His
XM_011525978.2:c.8998G>C	XP_011524280.1:p.Asp3000His
XM_011525979.2:c.8989G>C	XP_011524281.1:p.Asp2997His
XM_011525980.2:c.8980G>C	XP_011524282.1:p.Asp2994His
XM_011525981.2:c.8866G>C	XP_011524283.1:p.Asp2956His
XM_011525982.2:c.8701G>C	XP_011524284.1:p.Asp2901His
XM_017025743.1:c.6850G>C	XP_016881232.1:p.Asp2284His
XM_017025744.1:c.4540G>C	XP_016881233.1:p.Asp1514His
XR_001753199.1:n.9239G>C
NM_000227.5:c.4144G>C	NP_000218.3:p.Asp1382His
NM_001127717.3:c.8803G>C	NP_001121189.2:p.Asp2935His
NM_001127718.3:c.3976G>C	NP_001121190.2:p.Asp1326His
NM_198129.3:c.8971G>C	NP_937762.2:p.Asp2991His
NM_000227.6:c.4144G>C MANE Plus Clinical	NP_000218.3:p.Asp1382His
NM_001127717.4:c.8803G>C	NP_001121189.2:p.Asp2935His
NM_001127718.4:c.3976G>C	NP_001121190.2:p.Asp1326His
NM_198129.4:c.8971G>C MANE Select	NP_937762.2:p.Asp2991His