Canonical Allele Identifier: CA503522821

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21530046A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23950082A>C , CM000680.2:g.23950082A>C	GRCh38
NC_000018.9:g.21530046A>C , CM000680.1:g.21530046A>C	GRCh37
NC_000018.8:g.19784044A>C	NCBI36
NG_007853.2:g.265485A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269217.11:c.4738A>C MANE Plus Clinical	ENSP00000269217.5:p.Arg1580=
ENST00000313654.14:c.9565A>C MANE Select	ENSP00000324532.8:p.Arg3189=
ENST00000649721.1:c.6160A>C	ENSP00000497885.1:p.Arg2054=
ENST00000269217.10:c.4738A>C	ENSP00000269217.5:p.Arg1580=
ENST00000313654.13:c.9565A>C	ENSP00000324532.8:p.Arg3189=
ENST00000399516.7:c.9397A>C	ENSP00000382432.2:p.Arg3133=
ENST00000587184.5:c.4570A>C	ENSP00000466557.1:p.Arg1524=
ENST00000588004.1:c.86A>C
ENST00000588770.5:n.4143A>C
NM_000227.4:c.4738A>C	NP_000218.3:p.Arg1580=
NM_001127717.2:c.9397A>C	NP_001121189.2:p.Arg3133=
NM_001127718.2:c.4570A>C	NP_001121190.2:p.Arg1524=
NM_198129.2:c.9565A>C	NP_937762.2:p.Arg3189=
XM_011525978.1:c.9592A>C	XP_011524280.1:p.Arg3198=
XM_011525979.1:c.9583A>C	XP_011524281.1:p.Arg3195=
XM_011525980.1:c.9574A>C	XP_011524282.1:p.Arg3192=
XM_011525981.1:c.9460A>C	XP_011524283.1:p.Arg3154=
XM_011525982.1:c.9295A>C	XP_011524284.1:p.Arg3099=
XM_011525978.2:c.9592A>C	XP_011524280.1:p.Arg3198=
XM_011525979.2:c.9583A>C	XP_011524281.1:p.Arg3195=
XM_011525980.2:c.9574A>C	XP_011524282.1:p.Arg3192=
XM_011525981.2:c.9460A>C	XP_011524283.1:p.Arg3154=
XM_011525982.2:c.9295A>C	XP_011524284.1:p.Arg3099=
XM_017025743.1:c.7444A>C	XP_016881232.1:p.Arg2482=
XM_017025744.1:c.5134A>C	XP_016881233.1:p.Arg1712=
XR_001753199.1:n.9833A>C
NM_000227.5:c.4738A>C	NP_000218.3:p.Arg1580=
NM_001127717.3:c.9397A>C	NP_001121189.2:p.Arg3133=
NM_001127718.3:c.4570A>C	NP_001121190.2:p.Arg1524=
NM_198129.3:c.9565A>C	NP_937762.2:p.Arg3189=
NM_000227.6:c.4738A>C MANE Plus Clinical	NP_000218.3:p.Arg1580=
NM_001127717.4:c.9397A>C	NP_001121189.2:p.Arg3133=
NM_001127718.4:c.4570A>C	NP_001121190.2:p.Arg1524=
NM_198129.4:c.9565A>C MANE Select	NP_937762.2:p.Arg3189=