Canonical Allele Identifier: CA503336533

Gene: LAMA3

Linked Data

• MyVariant Identifiers: chr18:g.21444751T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.23864787T>C , CM000680.2:g.23864787T>C	GRCh38
NC_000018.9:g.21444751T>C , CM000680.1:g.21444751T>C	GRCh37
NC_000018.8:g.19698749T>C	NCBI36
NG_007853.2:g.180190T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313654.14:c.4587T>C MANE Select	ENSP00000324532.8:p.Val1529=
ENST00000649721.1:c.1479T>C	ENSP00000497885.1:p.Val493=
ENST00000313654.13:c.4587T>C	ENSP00000324532.8:p.Val1529=
ENST00000399516.7:c.4587T>C	ENSP00000382432.2:p.Val1529=
NM_001127717.2:c.4587T>C	NP_001121189.2:p.Val1529=
NM_198129.2:c.4587T>C	NP_937762.2:p.Val1529=
XM_011525978.1:c.4614T>C	XP_011524280.1:p.Val1538=
XM_011525979.1:c.4605T>C	XP_011524281.1:p.Val1535=
XM_011525980.1:c.4596T>C	XP_011524282.1:p.Val1532=
XM_011525981.1:c.4482T>C	XP_011524283.1:p.Val1494=
XM_011525982.1:c.4614T>C	XP_011524284.1:p.Val1538=
XM_011525978.2:c.4614T>C	XP_011524280.1:p.Val1538=
XM_011525979.2:c.4605T>C	XP_011524281.1:p.Val1535=
XM_011525980.2:c.4596T>C	XP_011524282.1:p.Val1532=
XM_011525981.2:c.4482T>C	XP_011524283.1:p.Val1494=
XM_011525982.2:c.4614T>C	XP_011524284.1:p.Val1538=
XM_017025743.1:c.2466T>C	XP_016881232.1:p.Val822=
XM_017025744.1:c.156T>C	XP_016881233.1:p.Val52=
XR_001753199.1:n.4855T>C
NM_001127717.3:c.4587T>C	NP_001121189.2:p.Val1529=
NM_198129.3:c.4587T>C	NP_937762.2:p.Val1529=
NM_001127717.4:c.4587T>C	NP_001121189.2:p.Val1529=
NM_198129.4:c.4587T>C MANE Select	NP_937762.2:p.Val1529=