Canonical Allele Identifier: CA8916666
Community Standard Title: NM_198129.4(LAMA3):c.7482-5A>C
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23914693A>C , CM000680.2:g.23914693A>C GRCh38
NC_000018.9:g.21494657A>C , CM000680.1:g.21494657A>C GRCh37
NC_000018.8:g.19748655A>C NCBI36
NG_007853.2:g.230096A>C

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.7482-5A>C MANE Select NP_937762.2:n.7482-5A>C
ENST00000313654.14:c.7482-5A>C MANE Select ENSP00000324532.8:n.7482-5A>C
NM_000227.6:c.2655-5A>C MANE Plus Clinical NP_000218.3:n.2655-5A>C
ENST00000269217.11:c.2655-5A>C MANE Plus Clinical ENSP00000269217.5:n.2655-5A>C
NM_000227.4:c.2655-5A>C NP_000218.3:n.2655-5A>C
NM_000227.5:c.2655-5A>C NP_000218.3:n.2655-5A>C
NM_001127717.2:c.7314-5A>C NP_001121189.2:n.7314-5A>C
NM_001127717.3:c.7314-5A>C NP_001121189.2:n.7314-5A>C
NM_001127717.4:c.7314-5A>C NP_001121189.2:n.7314-5A>C
NM_001127718.2:c.2487-5A>C NP_001121190.2:n.2487-5A>C
NM_001127718.3:c.2487-5A>C NP_001121190.2:n.2487-5A>C
NM_001127718.4:c.2487-5A>C NP_001121190.2:n.2487-5A>C
NM_198129.2:c.7482-5A>C NP_937762.2:n.7482-5A>C
NM_198129.3:c.7482-5A>C NP_937762.2:n.7482-5A>C
ENST00000269217.10:c.2655-5A>C ENSP00000269217.5:n.2655-5A>C
ENST00000313654.13:c.7482-5A>C ENSP00000324532.8:n.7482-5A>C
ENST00000399516.7:c.7314-5A>C ENSP00000382432.2:n.7314-5A>C
ENST00000586751.5:c.2260-5A>C
ENST00000587184.5:c.2487-5A>C ENSP00000466557.1:n.2487-5A>C
ENST00000588770.5:n.2060-5A>C
ENST00000649721.1:c.4077-5A>C ENSP00000497885.1:n.4077-5A>C
XM_011525978.1:c.7509-5A>C XP_011524280.1:n.7509-5A>C
XM_011525978.2:c.7509-5A>C XP_011524280.1:n.7509-5A>C
XM_011525979.1:c.7500-5A>C XP_011524281.1:n.7500-5A>C
XM_011525979.2:c.7500-5A>C XP_011524281.1:n.7500-5A>C
XM_011525980.1:c.7491-5A>C XP_011524282.1:n.7491-5A>C
XM_011525980.2:c.7491-5A>C XP_011524282.1:n.7491-5A>C
XM_011525981.1:c.7377-5A>C XP_011524283.1:n.7377-5A>C
XM_011525981.2:c.7377-5A>C XP_011524283.1:n.7377-5A>C
XM_011525982.1:c.7212-5A>C XP_011524284.1:n.7212-5A>C
XM_011525982.2:c.7212-5A>C XP_011524284.1:n.7212-5A>C
XM_017025743.1:c.5361-5A>C XP_016881232.1:n.5361-5A>C
XM_017025744.1:c.3051-5A>C XP_016881233.1:n.3051-5A>C
XR_001753199.1:n.7750-5A>C