Canonical Allele Identifier: CA402044888

Gene: LAMA3

Linked Data

• dbSNP Id: rs1426556887
• gnomAD v2: 18-21456276-T-C
• gnomAD v4: 18-23876312-T-C
• MyVariant Identifiers: chr18:g.21456276T>C (hg19) ; chr18:g.23876312T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23876312T>C , CM000680.2:g.23876312T>C	GRCh38
NC_000018.9:g.21456276T>C , CM000680.1:g.21456276T>C	GRCh37
NC_000018.8:g.19710274T>C	NCBI36
NG_007853.2:g.191715T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.190T>C MANE Plus Clinical	ENSP00000269217.5:p.Tyr64His
ENST00000313654.14:c.5017T>C MANE Select	ENSP00000324532.8:p.Tyr1673His
ENST00000649721.1:c.1909T>C	ENSP00000497885.1:p.Tyr637His
ENST00000269217.10:c.190T>C	ENSP00000269217.5:p.Tyr64His
ENST00000313654.13:c.5017T>C	ENSP00000324532.8:p.Tyr1673His
ENST00000399516.7:c.5017T>C	ENSP00000382432.2:p.Tyr1673His
ENST00000587184.5:c.190T>C	ENSP00000466557.1:p.Tyr64His
NM_000227.4:c.190T>C	NP_000218.3:p.Tyr64His
NM_001127717.2:c.5017T>C	NP_001121189.2:p.Tyr1673His
NM_001127718.2:c.190T>C	NP_001121190.2:p.Tyr64His
NM_198129.2:c.5017T>C	NP_937762.2:p.Tyr1673His
XM_011525978.1:c.5044T>C	XP_011524280.1:p.Tyr1682His
XM_011525979.1:c.5035T>C	XP_011524281.1:p.Tyr1679His
XM_011525980.1:c.5026T>C	XP_011524282.1:p.Tyr1676His
XM_011525981.1:c.4912T>C	XP_011524283.1:p.Tyr1638His
XM_011525982.1:c.5044T>C	XP_011524284.1:p.Tyr1682His
XM_011525978.2:c.5044T>C	XP_011524280.1:p.Tyr1682His
XM_011525979.2:c.5035T>C	XP_011524281.1:p.Tyr1679His
XM_011525980.2:c.5026T>C	XP_011524282.1:p.Tyr1676His
XM_011525981.2:c.4912T>C	XP_011524283.1:p.Tyr1638His
XM_011525982.2:c.5044T>C	XP_011524284.1:p.Tyr1682His
XM_017025743.1:c.2896T>C	XP_016881232.1:p.Tyr966His
XM_017025744.1:c.586T>C	XP_016881233.1:p.Tyr196His
XR_001753199.1:n.5285T>C
NM_000227.5:c.190T>C	NP_000218.3:p.Tyr64His
NM_001127717.3:c.5017T>C	NP_001121189.2:p.Tyr1673His
NM_001127718.3:c.190T>C	NP_001121190.2:p.Tyr64His
NM_198129.3:c.5017T>C	NP_937762.2:p.Tyr1673His
NM_000227.6:c.190T>C MANE Plus Clinical	NP_000218.3:p.Tyr64His
NM_001127717.4:c.5017T>C	NP_001121189.2:p.Tyr1673His
NM_001127718.4:c.190T>C	NP_001121190.2:p.Tyr64His
NM_198129.4:c.5017T>C MANE Select	NP_937762.2:p.Tyr1673His