Canonical Allele Identifier: CA402051995
Gene: LAMA3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23950086G>T , CM000680.2:g.23950086G>T GRCh38
NC_000018.9:g.21530050G>T , CM000680.1:g.21530050G>T GRCh37
NC_000018.8:g.19784048G>T NCBI36
NG_007853.2:g.265489G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000269217.11:c.4742G>T MANE Plus Clinical ENSP00000269217.5:p.Ser1581Ile
ENST00000313654.14:c.9569G>T MANE Select ENSP00000324532.8:p.Ser3190Ile
ENST00000649721.1:c.6164G>T ENSP00000497885.1:p.Ser2055Ile
ENST00000269217.10:c.4742G>T ENSP00000269217.5:p.Ser1581Ile
ENST00000313654.13:c.9569G>T ENSP00000324532.8:p.Ser3190Ile
ENST00000399516.7:c.9401G>T ENSP00000382432.2:p.Ser3134Ile
ENST00000587184.5:c.4574G>T ENSP00000466557.1:p.Ser1525Ile
ENST00000588004.1:c.90G>T
ENST00000588770.5:n.4147G>T
NM_000227.4:c.4742G>T NP_000218.3:p.Ser1581Ile
NM_001127717.2:c.9401G>T NP_001121189.2:p.Ser3134Ile
NM_001127718.2:c.4574G>T NP_001121190.2:p.Ser1525Ile
NM_198129.2:c.9569G>T NP_937762.2:p.Ser3190Ile
XM_011525978.1:c.9596G>T XP_011524280.1:p.Ser3199Ile
XM_011525979.1:c.9587G>T XP_011524281.1:p.Ser3196Ile
XM_011525980.1:c.9578G>T XP_011524282.1:p.Ser3193Ile
XM_011525981.1:c.9464G>T XP_011524283.1:p.Ser3155Ile
XM_011525982.1:c.9299G>T XP_011524284.1:p.Ser3100Ile
XM_011525978.2:c.9596G>T XP_011524280.1:p.Ser3199Ile
XM_011525979.2:c.9587G>T XP_011524281.1:p.Ser3196Ile
XM_011525980.2:c.9578G>T XP_011524282.1:p.Ser3193Ile
XM_011525981.2:c.9464G>T XP_011524283.1:p.Ser3155Ile
XM_011525982.2:c.9299G>T XP_011524284.1:p.Ser3100Ile
XM_017025743.1:c.7448G>T XP_016881232.1:p.Ser2483Ile
XM_017025744.1:c.5138G>T XP_016881233.1:p.Ser1713Ile
XR_001753199.1:n.9837G>T
NM_000227.5:c.4742G>T NP_000218.3:p.Ser1581Ile
NM_001127717.3:c.9401G>T NP_001121189.2:p.Ser3134Ile
NM_001127718.3:c.4574G>T NP_001121190.2:p.Ser1525Ile
NM_198129.3:c.9569G>T NP_937762.2:p.Ser3190Ile
NM_000227.6:c.4742G>T MANE Plus Clinical NP_000218.3:p.Ser1581Ile
NM_001127717.4:c.9401G>T NP_001121189.2:p.Ser3134Ile
NM_001127718.4:c.4574G>T NP_001121190.2:p.Ser1525Ile
NM_198129.4:c.9569G>T MANE Select NP_937762.2:p.Ser3190Ile