Canonical Allele Identifier: CA503327888

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21456314T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23876350T>G , CM000680.2:g.23876350T>G	GRCh38
NC_000018.9:g.21456314T>G , CM000680.1:g.21456314T>G	GRCh37
NC_000018.8:g.19710312T>G	NCBI36
NG_007853.2:g.191753T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.228T>G MANE Plus Clinical	ENSP00000269217.5:p.Val76=
ENST00000313654.14:c.5055T>G MANE Select	ENSP00000324532.8:p.Val1685=
ENST00000649721.1:c.1947T>G	ENSP00000497885.1:p.Val649=
ENST00000269217.10:c.228T>G	ENSP00000269217.5:p.Val76=
ENST00000313654.13:c.5055T>G	ENSP00000324532.8:p.Val1685=
ENST00000399516.7:c.5055T>G	ENSP00000382432.2:p.Val1685=
ENST00000587184.5:c.228T>G	ENSP00000466557.1:p.Val76=
NM_000227.4:c.228T>G	NP_000218.3:p.Val76=
NM_001127717.2:c.5055T>G	NP_001121189.2:p.Val1685=
NM_001127718.2:c.228T>G	NP_001121190.2:p.Val76=
NM_198129.2:c.5055T>G	NP_937762.2:p.Val1685=
XM_011525978.1:c.5082T>G	XP_011524280.1:p.Val1694=
XM_011525979.1:c.5073T>G	XP_011524281.1:p.Val1691=
XM_011525980.1:c.5064T>G	XP_011524282.1:p.Val1688=
XM_011525981.1:c.4950T>G	XP_011524283.1:p.Val1650=
XM_011525982.1:c.5082T>G	XP_011524284.1:p.Val1694=
XM_011525978.2:c.5082T>G	XP_011524280.1:p.Val1694=
XM_011525979.2:c.5073T>G	XP_011524281.1:p.Val1691=
XM_011525980.2:c.5064T>G	XP_011524282.1:p.Val1688=
XM_011525981.2:c.4950T>G	XP_011524283.1:p.Val1650=
XM_011525982.2:c.5082T>G	XP_011524284.1:p.Val1694=
XM_017025743.1:c.2934T>G	XP_016881232.1:p.Val978=
XM_017025744.1:c.624T>G	XP_016881233.1:p.Val208=
XR_001753199.1:n.5323T>G
NM_000227.5:c.228T>G	NP_000218.3:p.Val76=
NM_001127717.3:c.5055T>G	NP_001121189.2:p.Val1685=
NM_001127718.3:c.228T>G	NP_001121190.2:p.Val76=
NM_198129.3:c.5055T>G	NP_937762.2:p.Val1685=
NM_000227.6:c.228T>G MANE Plus Clinical	NP_000218.3:p.Val76=
NM_001127717.4:c.5055T>G	NP_001121189.2:p.Val1685=
NM_001127718.4:c.228T>G	NP_001121190.2:p.Val76=
NM_198129.4:c.5055T>G MANE Select	NP_937762.2:p.Val1685=