Canonical Allele Identifier: CA8916728
Community Standard Title: NM_198129.4(LAMA3):c.7723T>C (p.Tyr2575His)
Gene: LAMA3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.23915367T>C , CM000680.2:g.23915367T>C GRCh38
NC_000018.9:g.21495331T>C , CM000680.1:g.21495331T>C GRCh37
NC_000018.8:g.19749329T>C NCBI36
NG_007853.2:g.230770T>C

Transcript Alleles

HGVS Amino-acid Change
NM_198129.4:c.7723T>C MANE Select NP_937762.2:p.Tyr2575His
ENST00000313654.14:c.7723T>C MANE Select ENSP00000324532.8:p.Tyr2575His
NM_000227.6:c.2896T>C MANE Plus Clinical NP_000218.3:p.Tyr966His
ENST00000269217.11:c.2896T>C MANE Plus Clinical ENSP00000269217.5:p.Tyr966His
NM_000227.4:c.2896T>C NP_000218.3:p.Tyr966His
NM_000227.5:c.2896T>C NP_000218.3:p.Tyr966His
NM_001127717.2:c.7555T>C NP_001121189.2:p.Tyr2519His
NM_001127717.3:c.7555T>C NP_001121189.2:p.Tyr2519His
NM_001127717.4:c.7555T>C NP_001121189.2:p.Tyr2519His
NM_001127718.2:c.2728T>C NP_001121190.2:p.Tyr910His
NM_001127718.3:c.2728T>C NP_001121190.2:p.Tyr910His
NM_001127718.4:c.2728T>C NP_001121190.2:p.Tyr910His
NM_198129.2:c.7723T>C NP_937762.2:p.Tyr2575His
NM_198129.3:c.7723T>C NP_937762.2:p.Tyr2575His
ENST00000269217.10:c.2896T>C ENSP00000269217.5:p.Tyr966His
ENST00000313654.13:c.7723T>C ENSP00000324532.8:p.Tyr2575His
ENST00000399516.7:c.7555T>C ENSP00000382432.2:p.Tyr2519His
ENST00000586751.5:c.2501T>C
ENST00000587184.5:c.2728T>C ENSP00000466557.1:p.Tyr910His
ENST00000588770.5:n.2301T>C
ENST00000649721.1:c.4318T>C ENSP00000497885.1:p.Tyr1440His
XM_011525978.1:c.7750T>C XP_011524280.1:p.Tyr2584His
XM_011525978.2:c.7750T>C XP_011524280.1:p.Tyr2584His
XM_011525979.1:c.7741T>C XP_011524281.1:p.Tyr2581His
XM_011525979.2:c.7741T>C XP_011524281.1:p.Tyr2581His
XM_011525980.1:c.7732T>C XP_011524282.1:p.Tyr2578His
XM_011525980.2:c.7732T>C XP_011524282.1:p.Tyr2578His
XM_011525981.1:c.7618T>C XP_011524283.1:p.Tyr2540His
XM_011525981.2:c.7618T>C XP_011524283.1:p.Tyr2540His
XM_011525982.1:c.7453T>C XP_011524284.1:p.Tyr2485His
XM_011525982.2:c.7453T>C XP_011524284.1:p.Tyr2485His
XM_017025743.1:c.5602T>C XP_016881232.1:p.Tyr1868His
XM_017025744.1:c.3292T>C XP_016881233.1:p.Tyr1098His
XR_001753199.1:n.7991T>C