Canonical Allele Identifier: CA503336608

Gene: LAMA3

Linked Data

• dbSNP Id: rs1261716701
• gnomAD v3: 18-23905575-T-C
• gnomAD v4: 18-23905575-T-C
• MyVariant Identifiers: chr18:g.21485539T>C (hg19) ; chr18:g.23905575T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23905575T>C , CM000680.2:g.23905575T>C	GRCh38
NC_000018.9:g.21485539T>C , CM000680.1:g.21485539T>C	GRCh37
NC_000018.8:g.19739537T>C	NCBI36
NG_007853.2:g.220978T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.1842T>C MANE Plus Clinical	ENSP00000269217.5:p.Ser614=
ENST00000313654.14:c.6669T>C MANE Select	ENSP00000324532.8:p.Ser2223=
ENST00000649721.1:c.3561T>C	ENSP00000497885.1:p.Ser1187=
ENST00000269217.10:c.1842T>C	ENSP00000269217.5:p.Ser614=
ENST00000313654.13:c.6669T>C	ENSP00000324532.8:p.Ser2223=
ENST00000399516.7:c.6501T>C	ENSP00000382432.2:p.Ser2167=
ENST00000586751.5:c.1447T>C
ENST00000587184.5:c.1674T>C	ENSP00000466557.1:p.Ser558=
ENST00000588770.5:n.1247T>C
NM_000227.4:c.1842T>C	NP_000218.3:p.Ser614=
NM_001127717.2:c.6501T>C	NP_001121189.2:p.Ser2167=
NM_001127718.2:c.1674T>C	NP_001121190.2:p.Ser558=
NM_198129.2:c.6669T>C	NP_937762.2:p.Ser2223=
XM_011525978.1:c.6696T>C	XP_011524280.1:p.Ser2232=
XM_011525979.1:c.6687T>C	XP_011524281.1:p.Ser2229=
XM_011525980.1:c.6678T>C	XP_011524282.1:p.Ser2226=
XM_011525981.1:c.6564T>C	XP_011524283.1:p.Ser2188=
XM_011525982.1:c.6696T>C	XP_011524284.1:p.Ser2232=
XM_011525978.2:c.6696T>C	XP_011524280.1:p.Ser2232=
XM_011525979.2:c.6687T>C	XP_011524281.1:p.Ser2229=
XM_011525980.2:c.6678T>C	XP_011524282.1:p.Ser2226=
XM_011525981.2:c.6564T>C	XP_011524283.1:p.Ser2188=
XM_011525982.2:c.6696T>C	XP_011524284.1:p.Ser2232=
XM_017025743.1:c.4548T>C	XP_016881232.1:p.Ser1516=
XM_017025744.1:c.2238T>C	XP_016881233.1:p.Ser746=
XR_001753199.1:n.6937T>C
NM_000227.5:c.1842T>C	NP_000218.3:p.Ser614=
NM_001127717.3:c.6501T>C	NP_001121189.2:p.Ser2167=
NM_001127718.3:c.1674T>C	NP_001121190.2:p.Ser558=
NM_198129.3:c.6669T>C	NP_937762.2:p.Ser2223=
NM_000227.6:c.1842T>C MANE Plus Clinical	NP_000218.3:p.Ser614=
NM_001127717.4:c.6501T>C	NP_001121189.2:p.Ser2167=
NM_001127718.4:c.1674T>C	NP_001121190.2:p.Ser558=
NM_198129.4:c.6669T>C MANE Select	NP_937762.2:p.Ser2223=