Canonical Allele Identifier: CA8917048

Gene: LAMA3

Linked Data

• dbSNP Id: rs761596312
• ExAC: 18:21519297 C / A
• MyVariant Identifiers: chr18:g.21519297C>A (hg19) ; chr18:g.23939333C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23939333C>A , CM000680.2:g.23939333C>A	GRCh38
NC_000018.9:g.21519297C>A , CM000680.1:g.21519297C>A	GRCh37
NC_000018.8:g.19773295C>A	NCBI36
NG_007853.2:g.254736C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000269217.11:c.4146C>A MANE Plus Clinical	ENSP00000269217.5:p.Asp1382Glu
ENST00000313654.14:c.8973C>A MANE Select	ENSP00000324532.8:p.Asp2991Glu
ENST00000649721.1:c.5568C>A	ENSP00000497885.1:p.Asp1856Glu
ENST00000269217.10:c.4146C>A	ENSP00000269217.5:p.Asp1382Glu
ENST00000313654.13:c.8973C>A	ENSP00000324532.8:p.Asp2991Glu
ENST00000399516.7:c.8805C>A	ENSP00000382432.2:p.Asp2935Glu
ENST00000587184.5:c.3978C>A	ENSP00000466557.1:p.Asp1326Glu
ENST00000588770.5:n.3551C>A
NM_000227.4:c.4146C>A	NP_000218.3:p.Asp1382Glu
NM_001127717.2:c.8805C>A	NP_001121189.2:p.Asp2935Glu
NM_001127718.2:c.3978C>A	NP_001121190.2:p.Asp1326Glu
NM_198129.2:c.8973C>A	NP_937762.2:p.Asp2991Glu
XM_011525978.1:c.9000C>A	XP_011524280.1:p.Asp3000Glu
XM_011525979.1:c.8991C>A	XP_011524281.1:p.Asp2997Glu
XM_011525980.1:c.8982C>A	XP_011524282.1:p.Asp2994Glu
XM_011525981.1:c.8868C>A	XP_011524283.1:p.Asp2956Glu
XM_011525982.1:c.8703C>A	XP_011524284.1:p.Asp2901Glu
XM_011525978.2:c.9000C>A	XP_011524280.1:p.Asp3000Glu
XM_011525979.2:c.8991C>A	XP_011524281.1:p.Asp2997Glu
XM_011525980.2:c.8982C>A	XP_011524282.1:p.Asp2994Glu
XM_011525981.2:c.8868C>A	XP_011524283.1:p.Asp2956Glu
XM_011525982.2:c.8703C>A	XP_011524284.1:p.Asp2901Glu
XM_017025743.1:c.6852C>A	XP_016881232.1:p.Asp2284Glu
XM_017025744.1:c.4542C>A	XP_016881233.1:p.Asp1514Glu
XR_001753199.1:n.9241C>A
NM_000227.5:c.4146C>A	NP_000218.3:p.Asp1382Glu
NM_001127717.3:c.8805C>A	NP_001121189.2:p.Asp2935Glu
NM_001127718.3:c.3978C>A	NP_001121190.2:p.Asp1326Glu
NM_198129.3:c.8973C>A	NP_937762.2:p.Asp2991Glu
NM_000227.6:c.4146C>A MANE Plus Clinical	NP_000218.3:p.Asp1382Glu
NM_001127717.4:c.8805C>A	NP_001121189.2:p.Asp2935Glu
NM_001127718.4:c.3978C>A	NP_001121190.2:p.Asp1326Glu
NM_198129.4:c.8973C>A MANE Select	NP_937762.2:p.Asp2991Glu