Canonical Allele Identifier: CA503327818

Gene: LAMA3

Linked Data

• ClinVar Variation Id: 1968155
• ClinVar RCV Id: RCV002727290
• dbSNP Id: rs1169182678
• gnomAD v2: 18-21456275-C-T
• gnomAD v4: 18-23876311-C-T
• MyVariant Identifiers: chr18:g.21456275C>T (hg19) ; chr18:g.23876311C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23876311C>T , CM000680.2:g.23876311C>T	GRCh38
NC_000018.9:g.21456275C>T , CM000680.1:g.21456275C>T	GRCh37
NC_000018.8:g.19710273C>T	NCBI36
NG_007853.2:g.191714C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.189C>T MANE Plus Clinical	ENSP00000269217.5:p.Tyr63=
ENST00000313654.14:c.5016C>T MANE Select	ENSP00000324532.8:p.Tyr1672=
ENST00000649721.1:c.1908C>T	ENSP00000497885.1:p.Tyr636=
ENST00000269217.10:c.189C>T	ENSP00000269217.5:p.Tyr63=
ENST00000313654.13:c.5016C>T	ENSP00000324532.8:p.Tyr1672=
ENST00000399516.7:c.5016C>T	ENSP00000382432.2:p.Tyr1672=
ENST00000587184.5:c.189C>T	ENSP00000466557.1:p.Tyr63=
NM_000227.4:c.189C>T	NP_000218.3:p.Tyr63=
NM_001127717.2:c.5016C>T	NP_001121189.2:p.Tyr1672=
NM_001127718.2:c.189C>T	NP_001121190.2:p.Tyr63=
NM_198129.2:c.5016C>T	NP_937762.2:p.Tyr1672=
XM_011525978.1:c.5043C>T	XP_011524280.1:p.Tyr1681=
XM_011525979.1:c.5034C>T	XP_011524281.1:p.Tyr1678=
XM_011525980.1:c.5025C>T	XP_011524282.1:p.Tyr1675=
XM_011525981.1:c.4911C>T	XP_011524283.1:p.Tyr1637=
XM_011525982.1:c.5043C>T	XP_011524284.1:p.Tyr1681=
XM_011525978.2:c.5043C>T	XP_011524280.1:p.Tyr1681=
XM_011525979.2:c.5034C>T	XP_011524281.1:p.Tyr1678=
XM_011525980.2:c.5025C>T	XP_011524282.1:p.Tyr1675=
XM_011525981.2:c.4911C>T	XP_011524283.1:p.Tyr1637=
XM_011525982.2:c.5043C>T	XP_011524284.1:p.Tyr1681=
XM_017025743.1:c.2895C>T	XP_016881232.1:p.Tyr965=
XM_017025744.1:c.585C>T	XP_016881233.1:p.Tyr195=
XR_001753199.1:n.5284C>T
NM_000227.5:c.189C>T	NP_000218.3:p.Tyr63=
NM_001127717.3:c.5016C>T	NP_001121189.2:p.Tyr1672=
NM_001127718.3:c.189C>T	NP_001121190.2:p.Tyr63=
NM_198129.3:c.5016C>T	NP_937762.2:p.Tyr1672=
NM_000227.6:c.189C>T MANE Plus Clinical	NP_000218.3:p.Tyr63=
NM_001127717.4:c.5016C>T	NP_001121189.2:p.Tyr1672=
NM_001127718.4:c.189C>T	NP_001121190.2:p.Tyr63=
NM_198129.4:c.5016C>T MANE Select	NP_937762.2:p.Tyr1672=