Canonical Allele Identifier: CA503522304
Gene: LAMA3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.21478948T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23898984T>C , CM000680.2:g.23898984T>C GRCh38
NC_000018.9:g.21478948T>C , CM000680.1:g.21478948T>C GRCh37
NC_000018.8:g.19732946T>C NCBI36
NG_007853.2:g.214387T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000269217.11:c.928T>C MANE Plus Clinical ENSP00000269217.5:p.Leu310=
ENST00000313654.14:c.5755T>C MANE Select ENSP00000324532.8:p.Leu1919=
ENST00000649721.1:c.2647T>C ENSP00000497885.1:p.Leu883=
ENST00000269217.10:c.928T>C ENSP00000269217.5:p.Leu310=
ENST00000313654.13:c.5755T>C ENSP00000324532.8:p.Leu1919=
ENST00000399516.7:c.5755T>C ENSP00000382432.2:p.Leu1919=
ENST00000586709.1:n.143T>C
ENST00000586751.5:c.533T>C
ENST00000587184.5:c.928T>C ENSP00000466557.1:p.Leu310=
ENST00000588770.5:n.333T>C
NM_000227.4:c.928T>C NP_000218.3:p.Leu310=
NM_001127717.2:c.5755T>C NP_001121189.2:p.Leu1919=
NM_001127718.2:c.928T>C NP_001121190.2:p.Leu310=
NM_198129.2:c.5755T>C NP_937762.2:p.Leu1919=
XM_011525978.1:c.5782T>C XP_011524280.1:p.Leu1928=
XM_011525979.1:c.5773T>C XP_011524281.1:p.Leu1925=
XM_011525980.1:c.5764T>C XP_011524282.1:p.Leu1922=
XM_011525981.1:c.5650T>C XP_011524283.1:p.Leu1884=
XM_011525982.1:c.5782T>C XP_011524284.1:p.Leu1928=
XM_011525978.2:c.5782T>C XP_011524280.1:p.Leu1928=
XM_011525979.2:c.5773T>C XP_011524281.1:p.Leu1925=
XM_011525980.2:c.5764T>C XP_011524282.1:p.Leu1922=
XM_011525981.2:c.5650T>C XP_011524283.1:p.Leu1884=
XM_011525982.2:c.5782T>C XP_011524284.1:p.Leu1928=
XM_017025743.1:c.3634T>C XP_016881232.1:p.Leu1212=
XM_017025744.1:c.1324T>C XP_016881233.1:p.Leu442=
XR_001753199.1:n.6023T>C
NM_000227.5:c.928T>C NP_000218.3:p.Leu310=
NM_001127717.3:c.5755T>C NP_001121189.2:p.Leu1919=
NM_001127718.3:c.928T>C NP_001121190.2:p.Leu310=
NM_198129.3:c.5755T>C NP_937762.2:p.Leu1919=
NM_000227.6:c.928T>C MANE Plus Clinical NP_000218.3:p.Leu310=
NM_001127717.4:c.5755T>C NP_001121189.2:p.Leu1919=
NM_001127718.4:c.928T>C NP_001121190.2:p.Leu310=
NM_198129.4:c.5755T>C MANE Select NP_937762.2:p.Leu1919=