Canonical Allele Identifier: CA8915947
Community Standard Title: NM_198129.4(LAMA3):c.5223-13G>C
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23884760G>C , CM000680.2:g.23884760G>C GRCh38
NC_000018.9:g.21464724G>C , CM000680.1:g.21464724G>C GRCh37
NC_000018.8:g.19718722G>C NCBI36
NG_007853.2:g.200163G>C

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.5223-13G>C MANE Select NP_937762.2:n.5223-13G>C
ENST00000313654.14:c.5223-13G>C MANE Select ENSP00000324532.8:n.5223-13G>C
NM_000227.6:c.396-13G>C MANE Plus Clinical NP_000218.3:n.396-13G>C
ENST00000269217.11:c.396-13G>C MANE Plus Clinical ENSP00000269217.5:n.396-13G>C
NM_000227.4:c.396-13G>C NP_000218.3:n.396-13G>C
NM_000227.5:c.396-13G>C NP_000218.3:n.396-13G>C
NM_001127717.2:c.5223-13G>C NP_001121189.2:n.5223-13G>C
NM_001127717.3:c.5223-13G>C NP_001121189.2:n.5223-13G>C
NM_001127717.4:c.5223-13G>C NP_001121189.2:n.5223-13G>C
NM_001127718.2:c.396-13G>C NP_001121190.2:n.396-13G>C
NM_001127718.3:c.396-13G>C NP_001121190.2:n.396-13G>C
NM_001127718.4:c.396-13G>C NP_001121190.2:n.396-13G>C
NM_198129.2:c.5223-13G>C NP_937762.2:n.5223-13G>C
NM_198129.3:c.5223-13G>C NP_937762.2:n.5223-13G>C
ENST00000269217.10:c.396-13G>C ENSP00000269217.5:n.396-13G>C
ENST00000313654.13:c.5223-13G>C ENSP00000324532.8:n.5223-13G>C
ENST00000399516.7:c.5223-13G>C ENSP00000382432.2:n.5223-13G>C
ENST00000587184.5:c.396-13G>C ENSP00000466557.1:n.396-13G>C
ENST00000649721.1:c.2115-13G>C ENSP00000497885.1:n.2115-13G>C
XM_011525978.1:c.5250-13G>C XP_011524280.1:n.5250-13G>C
XM_011525978.2:c.5250-13G>C XP_011524280.1:n.5250-13G>C
XM_011525979.1:c.5241-13G>C XP_011524281.1:n.5241-13G>C
XM_011525979.2:c.5241-13G>C XP_011524281.1:n.5241-13G>C
XM_011525980.1:c.5232-13G>C XP_011524282.1:n.5232-13G>C
XM_011525980.2:c.5232-13G>C XP_011524282.1:n.5232-13G>C
XM_011525981.1:c.5118-13G>C XP_011524283.1:n.5118-13G>C
XM_011525981.2:c.5118-13G>C XP_011524283.1:n.5118-13G>C
XM_011525982.1:c.5250-13G>C XP_011524284.1:n.5250-13G>C
XM_011525982.2:c.5250-13G>C XP_011524284.1:n.5250-13G>C
XM_017025743.1:c.3102-13G>C XP_016881232.1:n.3102-13G>C
XM_017025744.1:c.792-13G>C XP_016881233.1:n.792-13G>C
XR_001753199.1:n.5491-13G>C